Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics
نویسندگان
چکیده
منابع مشابه
Hearing loss: A review on molecular genetics and epidemiologic aspects
Background and aims: Hearing loss (HL) happens due to the genetic or environmental causes or both. Risk factors include congenital infections and congenital deformities of auricle and ear duct. The present study was performed to briefly explain the genetics, molecular biology and epidemiology of HL in Middle East especially in Iran. Methods: An intense an...
متن کاملMitochondrial syndromic sensorineural hearing loss.
Mitochondrial diseases (MD) are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. Sensorineural hearing loss (SNHL) is often associated to mitochondrial dysfunctions both in syndromic, nonsyndromic forms. SNHL has been described in association to different mitochondrial multisystemic syndromes, often characterized by an i...
متن کاملGenetics of Hearing Loss
The revolution in genetics in the past decades has enabled identification of many of the genes associated with human hereditary diseases, and hearing loss is no exception. These discoveries have a profound impact on knowledge about inner ear function and the pathology caused by mutations in these genes, which becomes clinically and socially relevant because a significant proportion of hearing l...
متن کاملThe Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review
Purpose: Several causes for primary ovarian insufficiency have been described, including iatrogenic and environmental factor, viral infections, chronic disease as well as genetic alterations. Given the large number of genes described in the literature so far, the aim of this review was to collect all the genetic mutations associated with non-syndromic primary ovarian insufficiency. Methods: All...
متن کاملEvaluation of GJB2 and GJB6 Mutations in Patients Afflicted with Non-syndromic Hearing Loss
Background Non-syndromic hearing loss (NSHL) is assumed as one of the highly prevalent congenital defects in the world. In this regard, gap junction protein beta 2(GJB2), and gap junction protein beta 6(GJB6) mutations are considered as the leading congenital causes of deafness. The present study aimed to assess the prevalence of GJB2 and GJB6 mutations in NSHL cases. Materials and Methods This...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Pediatric Genetics
سال: 2018
ISSN: 2146-4596,2146-460X
DOI: 10.1055/s-0037-1617454