Development of a short form of the attitudes toward mathematics inventory

Existing instruments designed to measure mathematics attitudes were too long, dated, or assessed with only western samples. To address this issue, a shortened version of the Attitudes Toward Mathematics Inventory (short ATMI) which measures four subscales??enjoyment of mathematics, motivation to do mathematics, self-confidence in mathematics, and perceived value of mathematics??was created. Its factor structure, reliability, and validity were assessed with 1,601 participants from Singapore. Confirmatory factor analyses supported the original four-factor structure. Within this structure, however, several items were found to correlate highly with others. Their removal either improved or did not impact the properties of the instrument. As a result, these items were removed to produce the short ATMI. Furthermore, a very high correlation (r?=?.96) was found between the enjoyment and motivation subscales. Results of further analysis suggested the removal of the motivation subscale. The short ATMI exhibited strong correlations with the original scale (mean r?=?.96), good overall internal consistencies, both for the full short version (???=?.93) and for the individual subscales (mean ???=?.87), and satisfactory test?Cretest reliability over a 1-month period (mean r _xx ?=?.75). The validity of the short ATMI was further demonstrated through inter-correlations between its subscales, and through correlations with mathematics anxiety and achievement test scores. Participants were able to complete the short ATMI in less than 10?min, making it a viable option when survey administration time is limited. This time would reduce further with the removal of the motivation subscale.     

A comparative study of conventional and supercritical fluid extraction methods for the recovery of secondary metabolites from <Emphasis Type="Italic">Syzygium campanulatum</Emphasis> Korth

Syzygium campanulatum Korth is a plant, which is a rich source of secondary metabolites (especially flavanones, chalcone, and triterpenoids). In our present study, three conventional solvent extraction (CSE) techniques and supercritical fluid extraction (SFE) techniques were performed to achieve a maximum recovery of two flavanones, chalcone, and two triterpenoids from S. campanulatum leaves. Furthermore, a Box-Behnken design was constructed for the SFE technique using pressure, temperature, and particle size as independent variables, and yields of crude extract, individual and total secondary metabolites as the dependent variables. In the CSE procedure, twenty extracts were produced using ten different solvents and three techniques (maceration, soxhletion, and reflux). An enriched extract of five secondary metabolites was collected using n-hexane:methanol (1:1) soxhletion. Using food-grade ethanol as a modifier, the SFE methods produced a higher recovery (25.5%?84.9%) of selected secondary metabolites as compared to the CSE techniques (0.92%?66.00%).     

茶树中咖啡酰辅酶A氧甲基转移酶的基因克隆及其催化活性研究(英文)

目的:从茶树中克隆一种可以催化表没食子儿茶素没食子酸酯(EGCG)生成甲基化EGCG的酶——咖啡酰辅酶A氧甲基转移酶(CCo AOMT),实现甲基化EGCG的酶学合成,为甲基化EGCG的进一步开发利用提供理论依据和技术指导。创新点:本研究首次从茶树中克隆了一条CCo AOMT基因组序列;分析了CCo AOMT基因在不同茶树品种和不同成熟度茶鲜叶中的基因表达规律;证明了CCo AOMT具有催化合成甲基化EGCG的生物活性。方法:采用聚合酶链式反应(PCR)和序列分析获得CCo AOMT的编码序列和基因组序列;采用高效液相色谱-四级杆-飞行时间串联质谱技术(HPLC-QTOF-MS)分析酶促反应生成的甲基化EGCG产物(图4);采用实时荧光定量PCR分析CCo AOMT基因的表达差异(图5)。结论:本研究从茶树中克隆了CCo AOMT基因的编码序列(738 bp)和基因组序列(2678 bp),明确了该基因具有4个内含子和5个外显子;揭示了CCo AOMT可以催化EGCG生成EGCG4"Me、EGCG3"Me和EGCG3’Me等多种甲基化产物;证明了CCo AOMT具有催化生成甲基化EGCG的活性;并发现该基因的表达量高低与茶鲜叶的成熟度呈正相关关系。     

Comparative effects of plant growth regulators on leaf and stem explants of Labisia pumila var. alata

Objective: Labisia pumila var. alata, commonly known as ’Kacip Fatimah’ or ’Selusuh Fatimah’ in Southeast Asia, is traditionally used by members of the Malay community because of its post-partum medicinal properties. Its various pharmaceutical applications cause an excessive harvesting and lead to serious shortage in natural habitat. Thus, this in vitro propagation study investigated the effects of different plant growth regulators (PGRs) on in vitro leaf and stem explants of L. pumila. Methods: The capabilities of callus, shoot, and root formation were evaluated by culturing both explants on Murashige and Skoog (MS) medium supplemented with various PGRs at the concentrations of 0, 1, 3, 5, and 7 mg/L. Results: Medium supplemented with 3 mg/L indole-3-butyric acid (IBA) showed the optimal callogenesis from both leaf and stem explants with (72.34±19.55)% and (70.40±14.14)% efficacy, respectively. IBA was also found to be the most efficient PGR for root induction. A total of (50.00±7.07)% and (77.78±16.47)% of root formation were obtained from the in vitro stem and leaf explants after being cultured for (26.5±5.0) and (30.0±8.5) d in the medium supplemented with 1 and 3 mg/L of IBA, respectively. Shoot formation was only observed in stem explant, with the maximum percentage of formation ((100.00±0.00)%) that was obtained in 1 mg/L zeatin after (11.0±2.8) d of culture. Conclusions: Callus, roots, and shoots can be induced from in vitro leaf and stem explants of L. pumila through the manipulation of types and concentrations of PGRs.     

Identification and determination of major constituents in a traditional Chinese medicine compound recipe Xiongdankaiming tablet using HPLC-PDA/ESI-MS n and HPLC-UV/ELSD

Xiongdankaiming tablet (XDKMT), a well-known compound in traditional Chinese medicine, is widely used for the treatment of acute iridocyclitis and primary open-angle glaucoma. In this paper, accurate and reliable methods were developed for the identification of 20 constituents using high-performance liquid chromatography with photodiode array and electron spray ionization-mass spectrometry (HPLC-PDA/ESI-MS ⁿ ), and determination of nine of the constituents (chlorogenic acid, gentiopicroside, isochlorogenic acid B, diosmetin-7-O-β-d-glucopyranoside, apigenin, diosmetin, tauroursodeoxycholic acid, acacetin, and taurochenodeoxycholic acid) was developed using HPLC with ultraviolet absorption detector and evaporative light scattering detector (HPLC-UV/ELSD) for the first time. The best results were obtained on a Zorbax SB-C18 column with gradient elution using water (0.1% formic acid) (A) and methanol (0.1% formic acid) (B) at a flow rate of 0.7 ml/min. Tauroursodeoxycholic acid and taurochenodeoxycholic acid, owing to their low UV absorption, were detected by ELSD. The other seven compounds were analyzed by HPLC-UV with variable wavelengths. The calibration curves of all nine constituents showed good linear regression (R ²>0.9996) within the linearity ranges. The limits of detection and quantification were in the ranges of 0.0460–9.90 μg/ml and 0.115–24.8 μg/ml, respectively. The accuracy, in terms of recovery, varied from 95.3% to 104.9% with relative standard deviations (RSDs) less than 4.4%. Precision (with the intra- and inter-day variations less than 4.4%) was also suitable for its intended use. The developed method was successfully applied for the analysis of major components in XDKMT, which provides an appropriate method for the quality control of XDKMT.     

Prevalence of sensitization to weed pollens of Humulus scandens, Artemisia vulgaris, and Ambrosia artemisiifolia in northern China

Objective:Weed pollens are common sources of allergens worldwide.The prevalence of weed pollen sensitization is not yet fully known in China.The purpose of this study was to investigate the prevalence of sensitization to weed allergens from Artemisia,Ambrosia,and Humulus in northern China.Methods:A total of 1144 subjects(aged from 5 to 68 years) visiting our clinic from June to October 2011 underwent intradermal testing using a panel of 25 allergen sources.Subjects with positive skin responses to any pollen were further tested for their serum concentrations of IgE antibodies against Artemisia vulgaris,Ambrosia artemisiifolia,and Humulus scandens,and against the purified allergens,Art v 1 and Amb a 1.Results:Of 1144 subjects,170 had positive intradermal reactions to pollen and 144 donated serum for IgE testing.The prevalence of positive intradermal responses to pollens of Artemisia sieversiana,Artemisia annua,A.artemisiifolia,and H.scandens was 11.0%,10.2%,3.7%,and 6.6%,respectively.Among the intradermal positive subjects,the prevalence of specific IgE antigens to A.vulgaris was 58.3%,to A.artemisiifolia 14.7%,and to H.scandens 41.0%.The prevalence of specific IgE antigens to the allergen Art v 1 was 46.9%,and to Amb a 1 was 11.2%.The correlation between the presence of IgE antibodies specific to A.vulgaris and to the Art v 1 antigen was very high.Subjects with A.artemisiifolia specific IgE also had A.vulgaris specific IgE,but with relatively high levels of A.vulgaris IgE antibodies.There were no correlations between the presence of IgE antibodies to H.scandens and A.vulgaris or to H.scandens and A.artemisiifolia.Conclusions:The intradermal prevalence of weed pollen sensitization among allergic subjects in northern China is about 13.5%.Correlations of specific IgE antibodies suggest that pollen allergens from Artemisia and Humulus are independent sources for primary sensitization.     

Genetic variation in alkaloid accumulation in leaves of Nicotiana

Alkaloids are plant secondary metabolites that are widely distributed in Nicotiana species and contribute greatly to the quality of tobacco leaves. Some alkaloids, such as nornicotine and myosmine, have adverse effects on human health. To reduce the content of harmful alkaloids in tobacco leaves through conventional breeding, a genetic study of the alkaloid variation among different genotypes is required. In this study, alkaloid profiles in leaves of five Nicotiana tabacum cultivars and Nicotiana tomentosiformis were investigated. Six alkaloids were identified from all six genotypes via gas chromatograph-mass spectrometry (GC-MS). Significant differences in alkaloid content were observed both among different leaf positions and among cultivars. The contents of nornicotine and myosmine were positively and significantly correlated (R ²=0.881), and were also separated from those of other alkaloids by clustering. Thus, the genotype plays a major role in alkaloid accumulation, indicating a high potential for manipulation of alkaloid content through traditional breeding.     

Consciousness and Science: A Non-Dual Perspective on the Theology-Science Dialogue

In modern science, the synthesis of “nature/mind” in observation, experiment, and explanation, especially in physics and biology increasingly reveal a non-linear totality in which subject, object, and situation have become inseparable. This raises the interesting ontological question of the true nature of reality? Western science as seen in its evolution from Socratic Greece has tried to understand the world by objectifying it, resulting in dualistic dilemmas. Indian science, as seen in its evolution from the Vedic times (1500–500 bc) has tried to understand the world by subjectifying our consciousness of reality. Within the Hindu tradition, the Advaita-Vedanta school of philosophy offers possibilities for resolving not only the Cartesian dilemma but also a solution to the nature of difference in a non-dualistic totality. We also present the Advaita-Vedanta principle of superimposition as a useful approach to modern physical and social science, which have been increasingly forced to reject the absolute reductionism and dualism of classical differences between subject and object.     

Apigenin-7-<Emphasis Type="Italic">O</Emphasis>-β-<Emphasis Type="SmallCaps">d</Emphasis>-glycoside isolation from the highly copper-tolerant plant <Emphasis Type="Italic">Elsholtzia splendens</Emphasis>

Elsholtzia splendens (Lamiaceae) is a copper-tolerant plant species growing on copper deposits in the south of China. Chromatographic separation of n-BuOH extracts from the flowering aerial biomass afforded apigenin-7-O-β-d-glycoside, using macroporous resin, Sephadex? LH-20 gel, polyamide resin as well as preparative high-performance liquid chromatography (P-HPLC) columns. Chemical structure was elucidated using HPLC/ESI-MS (electrospray ionization-mass spectrometry), Fourier transform infrared (FTIR), and ¹D- and ²D-nuclear magnetic resonance (NMR). Apigenin-7-O-β-d-glycoside could be the post-harvesting product from E. splendens biomass.     

Influence of induced ciprofloxacin resistance on efflux pump activity of Klebsiella pneumoniae

Objective

The efflux pump (EP) is one of the major mechanisms of antibiotic resistance in Klebsiella pneumoniae. However, there are few reports on the effect of the abuse of antibiotic use on the activity of EPs. To determine whether the use of low efficacy antibiotics has any effect on the activity of EPs and induces drug resistance in K. pneumoniae, we investigated the effect of ciprofloxacin on the activity of EPs in K. pneumoniae strains.

Methods

Sixteen susceptible K. pneumoniae strains were isolated from patients and their minimum inhibitory concentrations (MICs) of ciprofloxacin were measured in the absence and presence of the pump inhibitor carbonyl cyanide m-chlorophenyl hydrazone (CCCP). The strains were then induced with a gradient of ciprofloxacin until the MICs of the strains showed no further increase, to obtain induced resistant strains. The EP activities of the strains before and after induction were compared using EP inhibition and ethidium bromide (EtBr) accumulation assays.

Results

The MIC values of the strains were 16–256 times higher after induction than before induction. In the presence of CCCP, the MIC values of 50% of the induced strains were 2–4-fold lower than that in the absence of this inhibitor. The EtBr accumulation assay showed that the fluorescence of EtBr in the induced cells was lower than that in the cells before induction.

Conclusions

EPs are widespread in susceptible and drug-resistant K. pneumoniae strains. Induction with ciprofloxacin may increase the activity of EPs in K. pneumoniae. The EtBr accumulation assay is more sensitive than the EP inhibition assay in evaluating the activity of EPs in K. pneumoniae.     

Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population简

Objective

A study in a Caucasian population has identified two single-nucleotide polymorphisms (SNPs) in ZNF533, one in DOCK4, and two in IMMP2L, which were all significantly associated with autism. They are located in AUTS1 and AUTS5, which have been identified as autism susceptibility loci in several genome-wide screens. The present study aimed to investigate whether ZNF533, DOCK4, and IMMP2L genes are also associated with autism in a northeastern Chinese Han population.

Methods

We performed a similar association study using families with three individuals (one autistic child and two unaffected parents). A family-based transmission disequilibrium test (TDT) was used to analyze the results.

Results

There were significant associations between autism and the two SNPs of ZNF533 gene (rs11885327: χ ²=4.5200, P=0.0335; rs1964081: χ ²=4.2610, P=0.0390) and the SNP of DOCK4 gene (rs2217262: χ ²=5.3430, P=0.0208).

Conclusions

Our data suggest that ZNF533 and DOCK4 genes are linked to a predisposition to autism in the northeastern Chinese Han population.     

Involvement of phosphatidate phosphatase in the biosynthesis of triacylglycerols in Chlamydomonas reinhardtii

Lipid biosynthesis is essential for eukaryotic cells, but the mechanisms of the process in microalgae remain poorly understood. Phosphatidic acid phosphohydrolase or 3-sn-phosphatidate phosphohydrolase (PAP) catalyzes the dephosphorylation of phosphatidic acid to form diacylglycerols and inorganic orthophosphates. This reaction is integral in the synthesis of triacylglycerols. In this study, the mRNA level of the PAP isoform CrPAP2 in a species of Chlamydomonas was found to increase in nitrogen-free conditions. Silencing of the CrPAP2 gene using RNA interference resulted in the decline of lipid content by 2.4%–17.4%. By contrast, over-expression of the CrPAP2 gene resulted in an increase in lipid content by 7.5%–21.8%. These observations indicate that regulation of the CrPAP2 gene can control the lipid content of the algal cells. In vitro CrPAP2 enzyme activity assay indicated that the cloned CrPAP2 gene exhibited biological activities.     

Analysis of endophytic fungi in roots of Santalum album Linn. and its host plant Kuhnia rosmarinifolia Vent.Si-sheng SUN,Xiao-mei CHEN,Shun-xing GUO简

Santalum album Linn. is an evergreen and hemi-parasitic tree, the heartwood-sandalwood of which was used during a long history in traditional Chinese medicine. Kuhnia rosmarinifolia Vent. is a good host for 1- or 2-year-old growing S. album. The interaction between S. album and K. rosmarinifolia is still little known. Many studies have been carried out on a number of plants for identification and diversity of endophytes. In this study, in total 25 taxa of endophytic fungi were isolated from the roots of S. album and the roots of K. rosmarinifolia. The most frequently isolated genera were Penicillium sp. 1 and Fusarium sp. 1 in the roots of S. album and K. rosmarinifolia, respectively. S. album is a root parasite of K. rosmarinifolia. The interesting result is that they apparently do not share the same endophytic fungi isolates. This study for the first time explored the content of endophytic fungi from S. album and K. rosmarinifolia, which provides important information for further studies.     

Expression of three essential antioxidants of Helicobacter pylori in clinical isolates

Objective

Helicobacter pylori maintains long-term persistence in the host and combats oxidative stress via many antioxidant proteins, which are expected to be relevant to bacterial-associated gastric diseases. We aimed to investigate the expression of three essential antioxidants in H. pylori strains isolated from patients with different clinical outcomes. Methods: Forty H. pylori strains were isolated from endoscopic biopsy specimens of gastric mucosa from 13 patients with gastric cancer, 13 with peptic ulcer, and 14 with gastritis. The expression of thioredoxin 1 (Trx1), arginase (RocF), and alkyl hydroperoxide reductase (AhpC) in H. pylori was measured by real-time PCR. Comparisons among multiple sample sets were analyzed using a one-way ANOVA test. Pearson’s correlation test was used to assess relationships among multiple continuous variables.

Results

Trx1 expression of H. pylori in gastric cancer and peptic ulcer tissues was higher than that in tissues with gastritis. RocF expression of H. pylori in gastric cancer tissues was higher than that in tissues exhibiting peptic ulcer and gastritis. However, we did not find any differences in AhpC expression in samples from patients with different clinical outcomes. The expression of Trx1 and RocF had a positive, linear correlation. The expression of Trx1 and AhpC had a positive correlation without a linear trend. We found no correlation between the expression of RocF and AhpC.

Conclusions

Our observations indicate that the expression of Trx1 and RocF in H. pylori might be related to gastric carcinogenesis. In H. pylori, the expression of members of the antioxidant system may be correlated and relevant to gastric cancer.     

Anti-adipogenic effects of extracts of Ficus deltoidea var. deltoidea and var. angustifolia on 3T3-L1 adipocytes简

Objective

This study examined the anti-adipogenic effects of extracts of Ficus deltoidea var. deltoidia and var. angustifolia, a natural slimming aid, on 3T3-L1 adipocytes.

Methods

Methanol and water extracts of leaves of the F. deltoidea varieties were analyzed to determine their total flavonoid content (TFC) and total phenolic content (TPC), respectively. The study was initiated by determining the maximum non-toxic dose (MNTD) of the methanol and water extracts for 3T3-L1 preadipocytes. Possible anti-adipogenic effects were then examined by treating 2-d post confluent 3T3-L1 preadipocytes with either methanol extract or water extract at MNTD and half MNTD (1/2MNTD), after which the preadipocytces were induced to form mature adipocytes. Visualisation and quantification of lipid content in mature adipocytes were carried out through oil red O staining and measurement of optical density (OD) at 520 nm, respectively.

Results

The TFCs of the methanol extracts were 1.36 and 1.97 g quercetin equivalents (QE)/100 g dry weight (DW), while the TPCs of the water extracts were 5.61 and 2.73 g gallic acid equivalents (GAE)/100 g DW for var. deltoidea and var. angustilofia, respectively. The MNTDs determined for methanol and water extracts were (300.0±28.3) and (225.0±21.2) μg/ml, respectively, for var. deltoidea, while much lower MNTDs [(60.0±2.0) μg/ml for methanol extracts and (8.0±1.0) μg/ml for water extracts] were recorded for var. angustifolia. Studies revealed that the methanol extracts of both varieties and the water extracts of var. angustifolia at either MNTD or 1/2MNTD significantly inhibited the maturation of preadipocytes. Conclusions: The inhibition of the formation of mature adipocytes indicated that leaf extracts of F. deltoidea could have potential anti-obesity effects.     

Improving the antioxidant activity and enriching salvianolic acids by the fermentation of <Emphasis Type="Italic">Salvia miltiorrhizae</Emphasis> with <Emphasis Type="Italic">Geomyces luteus</Emphasis>

The antioxidant activities and total phenolic content of fermented Salvia miltiorrhiza with fungus Geomyces luteus were investigated. The results revealed that G. luteus fermentation could significantly improve the antioxidant activity and total phenolic content of S. miltiorrhiza. The main antioxidant constituents were characterized by spectroscopic analysis as salvianolic acids. High-performance liquid chromatography (HPLC) quantification also showed the enhanced content of salvianolic acid B after fermentation. The present study suggests that G. luteus fermentations are effective in the S. miltiorrhiza salvianolic acids’ enrichment process.     

Genomic organization and sequence dynamics of the AvrPiz-t locus in Magnaporthe oryzae

Plants utilize multiple layers of defense mechanisms to fight against the invasion of diverse pathogens. The R gene mediates resistance, in most cases, dependent on the co-existence of its cognate pathogen-derived avirulence (Avr) gene. The rice blast R gene Piz-t corresponds in gene-for-gene fashion to the Magnaporthe oryzae Avr gene AvrPiz-t. In this study, we determined and compared the genomic sequences surrounding the AvrPiz-t gene in both avirulent and virulent isolates, designating as AvrPiz-t-ZB15 and avrPiz-t-70-15 regions, respectively. The sequence of the AvrPiz-t-ZB15 region is 120 966 bp whereas avrPiz-t-70-15 is 146 292 bp in length. The extreme sequence similarity and good synteny in gene order and content along with the absence of two predicted genes in the avrPiz-t-70-15 region were observed in the predicted protein-coding regions in the AvrPiz-t locus. Nevertheless, frequent presence/absence and highly dynamic organization of transposable elements (TEs) were identified, representing the major variation of the AvrPiz-t locus between different isolates. Moreover, TEs constitute 27.3% and 43.2% of the genomic contents of the AvrPiz-t-ZB15 and avrPiz-t-70-15 regions, respectively, indicating that TEs contribute largely to the organization and evolution of AvrPiz-t locus. The findings of this study suggest that M. oryzae could benefit in an evolutionary sense from the presence of active TEs in genes conferring avirulence and provide an ability to rapidly change and thus to overcome host R genes.     

Endophytes from medicinal plants and their potential for producing indole acetic acid,improving seed germination and mitigating oxidative stress

Medicinal plants have been used by marginal communities to treat various ailments. However, the potential of endophytes within these bio-prospective medicinal plants remains unknown. The present study elucidates the endophytic diversity of medicinal plants (Caralluma acutangula, Rhazya stricta, and Moringa peregrina) and the endophyte role in seed growth and oxidative stress. Various organs of medicinal plants yielded ten endophytes, which were identified as Phoma sp. (6 isolates), Alternaria sp. (2), Bipolaris sp. (1), and Cladosporium sp. (1) based on 18S rDNA sequencing and phylogenetic analysis. The culture filtrates (CFs; 25%, 50%, and 100% concentrations) from these endophytes were tested against the growth of normal and dwarf mutant rice lines. Endophytic CF exhibited dose-dependent growth stimulation and suppression effects. CF (100%) of Phoma sp. significantly increased rice seed germination and growth compared to controls and other endophytes. This growth-promoting effect was due to the presence of indole acetic acid in endophytic CF. The gas chromatography/mass spectrometry (GC/MS) analysis showed the highest indole acetic acid content ((54.31±0.21) μmol/L) in Bipolaris sp. In addition, the isolate of Bipolaris sp. exhibited significantly higher radical scavenging and anti-lipid peroxidation activity than the other isolates. Bipolaris sp. and Phoma sp. also exhibited significantly higher flavonoid and phenolic contents. The medicinal plants exhibited the presence of bio-prospective endophytic strains, which could be used for the improvement of crop growth and the mitigation of oxidative stresses.     

Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus

Objective

To screen mutations in FERM domain-containing protein 7 (FRMD7) gene in two Chinese families with X-linked idiopathic congenital nystagmus (XLICN).

Methods

Common ophthalmic data and peripheral blood of two Chinese XLICN families (families A and B) were collected after informed consent. Genomic DNA was prepared from the peripheral blood of members of the two families and from 100 normal controls. Mutations in the FRMD7 gene were determined by directly sequencing polymerase chain reaction (PCR) products.

Results

We identified a novel mutation c.980_983delATTA compound with c.986C>A mutation in the 11th exon of FRMD7 in family B, and a previously reported splicing mutation c.782G>C (p.R261G) in family A. The mutations were detected in patients and female carriers, while they were absent in other relatives or in the 100 normal controls.

Conclusions

Our results expand the spectrum of FRMD7 mutations in association with XLICN, and further confirm that the mutations of FRMD7 are the underlying molecular mechanism for XLICN.