Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing

Abstract The genetic heterogeneity of congenital hearing disorders makes molecular diagnosis expensive and time‐consuming using conventional techniques such as Sanger sequencing of DNA. In order to design an appropriate strategy of molecular diagnosis in the Algerian population, we explored the diversity of the involved mutations by studying 65 families affected by autosomal recessive forms of nonsyndromic hearing impairment (DFNB forms), which are the most prevalent early onset forms. We first carried out a systematic screening for mutations in GJB2 and the recurrent p.(Arg34*) mutation in TMC1, which were found in 31 (47.7%) families and 1 (1.5%) family, respectively. We then performed whole exome sequencing in nine of the remaining families, and identified the causative mutations in all the patients analyzed, either in the homozygous state (eight families) or in the compound heterozygous state (one family): (c.709C>T: p.(Arg237*)) and (c.2122C>T: p.(Arg708*)) in OTOF, (c.1334T>G: p.(Leu445Trp)) in SLC26A4, (c.764T>A: p.(Met255Lys)) in GIPC3, (c.518T>A: p.(Cys173Ser)) in LHFPL5, (c.5336T>C: p.(Leu1779Pro)) in MYO15A, (c.1807G>T: p.(Val603Phe)) in OTOA, (c.6080dup: p.(Asn2027Lys*9)) in PTPRQ, and (c.6017del: p.(Gly2006Alafs*13); c.7188_7189ins14: p.(Val2397Leufs*2)) in GPR98. Notably, 7 of these 10 mutations affecting 8 different genes had not been reported previously. These results highlight for the first time the genetic heterogeneity of the early on...
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research

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Source: Journal of the American Academy of Dermatology - Category: Dermatology Source Type: research
Abstract Deaf epistemology made a crucial contribution to an understanding of a Deaf worldview, yet did not quite encompass the "D/deaf experience." It started the conversation but seemingly stalled. In an expansion on earlier studies of Deaf epistemology, the researchers considered the question "What does it mean to be D/deaf?" D/deaf participants submitted narratives that were analyzed for common themes via grounded theory research methodology. Six open codes were identified: school, cultural capital, deficit/The Struggle, difference/empowerment, accessibility/technology, hearing technology. ...
Source: American Annals of the Deaf - Category: Audiology Authors: Tags: Am Ann Deaf Source Type: research
Abstract Age-related hearing loss (ARHL) is one of the most common sensory impairments, and has a serious impact on the quality of life (QOL) of affected individuals. The QOL and coping strategies of elderly people in Poland experiencing subjectively assessed hearing problems (SAHP) were analyzed. The method made use of the World Health Organization Quality of Life scale (WHOQOL Group, 1998) and three questionnaires tailored for the present study: the Coping Strategies Inventory, ARHP Inventory, and Participant Chart (Domagała-Zyśk, 2017). A generally good QOL for elderly respondents with SAHP was found. However...
Source: American Annals of the Deaf - Category: Audiology Authors: Tags: Am Ann Deaf Source Type: research
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Source: American Annals of the Deaf - Category: Audiology Authors: Tags: Am Ann Deaf Source Type: research
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Source: American Annals of the Deaf - Category: Audiology Authors: Tags: Am Ann Deaf Source Type: research
PMID: 31422971 [PubMed - in process]
Source: American Annals of the Deaf - Category: Audiology Authors: Tags: Am Ann Deaf Source Type: research
CONCLUSION: This case report highlights the importance of prenatal diagnosis through ultrasonography and magnetic resonance imaging. This is the first case report that has antenatal ultrasonographic features in the literature. PMID: 31421982 [PubMed - as supplied by publisher]
Source: Journal of Obstetrics and Gynaecology Canada : JOGC - Category: OBGYN Tags: J Obstet Gynaecol Can Source Type: research
The stick-on device transmits sound waves through the bones of the skull to the inner ear for processing into sounds. This bypasses the damage to the outer and middle ear that can cause deafness.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
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Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research
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Source: This Week in Virology - MP3 Edition - Category: Virology Authors: Source Type: podcasts
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