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Cell Journal [Yakhteh]. 2018; 20 (1): 127-131
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-191506


Autosomal recessive non-syndromic hearing loss [ARNSHL] is defined as a genetically heterogeneous disorder. The aim of the present study was to screen for pathogenic variants in an Iranian pedigree with ARNSHL. Next-generation targeted sequencing of 127 deafness genes in the proband detected two novel variants, a homozygous missense variant in PTPRQ [c.2599 T>C, p.Ser867Pro and a heterozygous missense variant in MYO1A [c.2804 T>C, p.Ile935Thr], both of which were absent in unaffected sibs and two hundred unaffected controls. Our results suggest that the homozygous PTPRQ variant maybe the pathogenic variant for ARNSHL due to the recessive nature of the disorder. Nevertheless, the heterozygous MYO1A may also be involved in this disorder due to the multigenic pattern of ARNSHL. Our data extend the mutation spectrum of PTPRQ and MYO1A, and have important implications for genetic counseling in unaffected sibs of this family. In addition, PTPRQ and MYO1A pathogenic variants have not to date been reported in the Iranian population

Cell Journal [Yakhteh]. 2018; 20 (2): 290-292
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-198740


Norrie disease [ND] is a rare X-linked recessive disorder, which is characterized by congenital blindness and, in several cases, accompanied with mental retardation and deafness. ND is caused by mutations in NDP, located on the proximal short arm of the X chromosome [Xp11.3]. The disease has been observed in many ethnic groups worldwide, however, no such case has been reported from Iran. In this study, we present the molecular analysis of two patients with ND and the subsequent prenatal diagnosis [PND]. Screening of NDP identified a hemizygous missense mutation [p.Ser133Cys] in the affected male siblings of the family. The mother was the carrier for the mutation [p.Ser133Cys]. In a subsequent chorionic amniotic pregnancy, we carried out PND by sequencing NDP in the chorionic villi sample at 11 weeks of gestation. The fetus was carrying the mutation and thus unaffected. This is the first mutation report and PND of an Iranian family with ND, and highlights the importance of prenatal diagnostic screening of this congenital disorder and relevant genetic counseling

IBJ-Iranian Biomedical Journal. 2017; 21 (5): 338-341
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-188491


Background: Osteogenesis imperfecta [Ol] is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of Ol

Methods: Molecular genetic analyses were performed for COLlAl, COL1A2, and CRTAP genes in an Iranian family with Ol. The DNA samples were analyzed by next-generation sequencing [NGS] gene panel and Sanger sequencing

Results: Five different variants were identified in COLlAl and COL1A2, including two variants in COLlAl and three variants in COL1A2. Among the five causative COLlAl and COL1A2 variants, one novel variants, c.1081 G>A, was found in COL1A2, which was identified in two siblings

Conclusion: Our finding extends the variant spectrum of the COL1A2 gene and has important implications for genetic counseling of families. The NGS is a powerful molecular diagnostic strategy for Ol, a heterogeneous disorder

Humanos , Colágeno Tipo I , Mutação de Sentido Incorreto , Irmãos , Aconselhamento Genético , Análise de Sequência , Consanguinidade