BackgroundClinical and genetic heterogeneity in monogenetic disorders represents a major diagnostic challenge. Although the presence of particular clinical features may aid in identifying a specific cause in some cases, the majority of patients remain undiagnosed.Here, we investigated the utility of whole-exome sequencing as a diagnostic approach for establishing a molecular diagnosis in a highly heterogeneous group of patients with varied intellectual disability and microcephaly.MethodsWhole-exome sequencing was performed in 38 patients, including three sib-pairs, in addition to or in parallel with genetic analyses that were performed during the diagnostic work-up of the study participants.ResultsIn ten out of these 35 families (29 %), we found mutations in genes already known to be related to a disorder in which microcephaly is a main feature. Two unrelated patients had mutations in the ASPM gene. In seven other patients we found mutations in RAB3GAP1, RNASEH2B, KIF11, ERCC8, CASK, DYRK1A and BRCA2. In one of the sib-pairs, mutations were found in the RTTN gene. Mutations were present in seven out of our ten families with an established etiological diagnosis with recessive inheritance.ConclusionsWe demonstrate that whole-exome sequencing is a powerful tool for the diagnostic evaluation of patients with highly heterogeneous neurodevelopmental disorders such as intellectual disability with microcephaly. Our results confirm that autosomal recessive disorders are highly prevalent among patients with microcephaly.Electronic supplementary materialThe online version of this article (doi:10.1186/s12920-016-0167-8) contains supplementary material, which is available to authorized users.

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The present study describes the clinical, biochemical, hormonal, and developmental characteristics of a patient affected 49,XXXXY syndrome with routine Fraccaro syndrome features accompanied by sexual masturbation behavior. This study summarized the clinical features and also maternal age on birth time of so far 49,XXXXY reported patients among the Iranian population.

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Fusarium oxysporum is a common soilborn plant pathogen with a worldwide distribution. Fusarium yellows disease of chickpea (Cicer arientinum) caused by F.oxysporum is one of the most destructive soilborn disease which is a major production constraint in chickpea-growing regions of Iran. Three laboratory methods "amplification of genomic DNA using random primers, enzyme activity staining, and colony size determination" have been used to discriminate between highly virulent (HV) and weakly virulent (WV) isolates of F. oxysporum. On the basis of colony size (a traditional morphological method) and the ability of isolates to produce pectic enzymes, five HV isolates were differentiated from three WV isolates. The HV isolates formed large colony (ranging from 10.1 to 12.6 mm in diameter) and showed the same enzyme pattern,while the WV isolates produced small colony (ranging from 5.8 to 7.8 mm in diameter) and had not detectable enzyme activity in the stained overlaying gel. Twelve arbitrary 10-mer primers were tested on these 8 isolates of F. oxysporum by Polymerase Chain Reaction (PCR). Cluster analysis of the data from the DNA amplification by Random Amplified Polymorphic DNA (RAPD), differentiated HV from WV isolates. The results obtained from RAPD test confirmed the classification of these eight isolates based on pathogenicity test, colony size, and enzyme activity staining into two groups (HV and WV).

Introduction: Broccoli (Brassica oleracea) is well recognized due to its properties as an anti-cancer, antioxidant and scavenging free radicals. However, its benefit in enhancing spermatogenesis is not well understood. Objectives: To investigate the effect of broccoli aqueous extract on sperm factors and also expression of the involving genes (Catsper1, Catsper2, Arl4a, Sox5 and Sox9) in sperm factors in mice. Material and methods: Male mice were divided randomly into six groups: (1) Control, (2) Cadmium (3 mg/kg mouse body weight), (3) Orally treated with 200 broccoli aqueous extract (1 g ml-1), (4) Orally treated with 400 µl of broccoli aqueous extract, (5) Orally treated with 200 broccoli aqueous extract plus cadmium, and (6) Orally treated with 400 µl of broccoli aqueous extract plus cadmium. Sperms factors and also gene expression in Catsper1, Catsper2, Arl4a, Sox5 and Sox9 genes were studied. Results: An obvious improvement in sperm number and slight enhancement in sperm motility was observed in mice treated with broccoli extract with and without cadmium. While sperm viability was reduced by broccoli extract, except for 200 µl of broccoli extract with cadmium that was significantly increased. Interestingly, Arl4a gene expression showed an increase in 400 µl broccoli-treated group. Likewise, the Arl4a mRNA level in mice treated with cadmium along with 200 µl broccoli extract was higher than in cadmium-treated mice. Furthermore, broccoli extract enhanced the mRNA level of Catsper2 and Sox5 genes in mice treated with both 200 and 400 µl broccoli extract along with cadmium than the only cadmium-treated group. Conclusion: Generally, improvement in sperm count in broccoli-treated mice provides insight into the pharmaceutical industry to make new products available to infertile men.

Objective Maple syrup urine disease (MSUD; OMIM #248600) is an autosomal recessive metabolic disorder in the catabolism of branched-chain amino acids (leucine, isoleucine, and valine) and may be lethal if untreated in affected newborns. Methods Single-nucleotide polymorphism haplotyping and Sanger sequencing of BCKDHA, BCKDHB, and DBT genes were performed in a cohort of 10 MSUD patients. Results We identified a 16.6 Mb homozygous region harboring the DBT gene in an Iranian girl presenting with MSUD. Sanger sequencing revealed a pathogenic homozygous variant (NM_001918.3: c.1174A > C) in the DBT gene. We further found a controversial variant (rs12021720: c.1150 A > G) in the DBT gene. This substitution (p.Ser384Gly) is highly debated in literature. Bioinformatics and cosegregation analysis, along with identifying the real pathogenic variants (c.1174 A > C), lead to terminate these various interpretations of c.1150 A > G variant. Conclusion Our study introduced c.1150 A > G as a polymorphic variant, which is informative for variant databases and also helpful in molecular diagnosis.