Genetic analysis of Usher syndrome associated genes in Iranian pedigrees: The prominent role of MYO7A gene
| Autor: | Majid Fardaei, Afsaneh Taghipour Sheshdeh, Sanaz Mohammadi, Seyed Sajjad Tabei, Fatemeh Asadian, Fatemeh Sadat Tabei, Mona Entezam |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Sanger sequencing Genetics Genetic heterogeneity MYO7A Usher syndrome Genetic counseling Pedigree chart Biology medicine.disease Genetic analysis eye diseases 03 medical and health sciences symbols.namesake 030104 developmental biology 0302 clinical medicine 030220 oncology & carcinogenesis otorhinolaryngologic diseases symbols medicine Exome sequencing |
| Zdroj: | Gene Reports. 18:100535 |
| ISSN: | 2452-0144 |
| Popis: | Background Usher syndrome is the most frequent cause of deaf-blindness with an autosomal recessive inheritance. It is characterized by significant clinical and genetic heterogeneity, which complicated the diagnosis and genetic counselling for affected pedigrees. Methods Whole Exome Sequencing (WES) was utilized to analyze eight unrelated large Iranian pedigrees suspected to have Usher syndrome with a totally of 23 affected patients. Sanger sequencing was performed to validate the NGS results and confirm the segregation of the mutant allele in affected members and their parents, respectively. Results Congenital hearing impairment was the predominant clinical finding of some patients at the time of referral. Genetic analysis revealed pathogenic mutations in Usher syndrome genes (MYO7A, CDH23, ADGRV1, USH1G, and USH2A) among them MYO7A was the most common mutated gene, which was identified in four pedigrees. Here we reported five novel mutations. Conclusion These data can expand the spectrum of Usher syndrome mutations; furthermore, reveal the most responsible causative gene in patients from the southern Iranian population. |
| Databáze: | OpenAIRE |
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