This study, the first molecular genetic analysis of non-ethnic-specific Iranian nephropathic cystinosis patients, may provide guidance for molecular diagnostics of cystinosis in Iran.

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Backgrounds: Retinal capillary hemangioblastoma (RCH) although may also be observed sporadically, is the most frequent and earliest manifestation of the Von Hippel-Lindau disease (VHL). This is the first report of different types of variants spectrum and genotype-phenotype correlations in the Iranian families with RCH. Methods: In this Prospective Observational Case Series study, 17 families with RCH were included. PCR was performed to amplify 3 exons of the VHL gene. Afterwards, Sanger sequencing was performed on all the PCR products. For the detection of VHL copy number variations, MLPA was used. Results: Our study identified 10 different types of predominantly pathogenic VHL variants. Missense mutations were the most common variants located on the α domain of the VHL protein (pVHL) in exon 3. Also, the pathogenic variants in RCH patients with CNS hemangioblastoma (CHB) mostly (72.7%) were located on the α domain. In a family, Proband’s sister had a different mutation with more severe clinical manifestations and a poor prognosis.Conclusion: α domain of VHL may play a potential role in the pathogenesis of RCH. Our findings suggest that the genotype-phenotype characteristics in those variants in α- domain may predispose patients to RCH with CHB.

Epidermolysis bullosa simplex (EBS) is one of the most common genetic bullous skin diseases characterized by the separation of the skin at the basal keratinocytes region after trauma and blister formation. The most important and most commonly occurring molecular defects in these patients are the defects of keratins 5 and14 (KRT5 and KRT14). →What this article adds:Exons 1 and 6-7 of KRT5 and exons 1 and 4-7 of KRT14 mutation detection were performed in this study. The results of molecular analyzing showed that the most severe phenotypes were associated with mutations in highly conserved regions. In some cases, different inheritance modes were observed. These mutations showed regional variations useful in genetic counseling and prenatal testing in different ethnic groups. Our data demonstrated the heterogenic status of KRT5 and KRT14 genes mutations.

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