OtoRhinoLaryngology by Sfakianakis G.Alexandros Sfakianakis G.Alexandros,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,tel : 00302841026182,00306932607174
Κυριακή 13 Μαΐου 2018
Improved Detection of Vowel Envelope Frequency Following Responses Using Hotelling’s T2 Analysis
from #Audiology via ola Kala on Inoreader https://ift.tt/2IeZskH
via IFTTT
Are You There for Me? Joint Engagement and Emotional Availability in Parent–Child Interactions for Toddlers With Moderate Hearing Loss
from #Audiology via ola Kala on Inoreader https://ift.tt/2Igv8WU
via IFTTT
Effects of Additional Low-Pass–Filtered Speech on Listening Effort for Noise-Band–Vocoded Speech in Quiet and in Noise
from #Audiology via ola Kala on Inoreader https://ift.tt/2IbE0RC
via IFTTT
Tinnitus Severity Is Related to the Sound Exposure of Symphony Orchestra Musicians Independently of Hearing Impairment
from #Audiology via ola Kala on Inoreader https://ift.tt/2Ih40aj
via IFTTT
Improved Detection of Vowel Envelope Frequency Following Responses Using Hotelling’s T2 Analysis
from #Audiology via xlomafota13 on Inoreader https://ift.tt/2IeZskH
via IFTTT
Are You There for Me? Joint Engagement and Emotional Availability in Parent–Child Interactions for Toddlers With Moderate Hearing Loss
from #Audiology via xlomafota13 on Inoreader https://ift.tt/2Igv8WU
via IFTTT
Effects of Additional Low-Pass–Filtered Speech on Listening Effort for Noise-Band–Vocoded Speech in Quiet and in Noise
from #Audiology via xlomafota13 on Inoreader https://ift.tt/2IbE0RC
via IFTTT
Tinnitus Severity Is Related to the Sound Exposure of Symphony Orchestra Musicians Independently of Hearing Impairment
from #Audiology via xlomafota13 on Inoreader https://ift.tt/2Ih40aj
via IFTTT
Improved Detection of Vowel Envelope Frequency Following Responses Using Hotelling’s T2 Analysis
from #Audiology via ola Kala on Inoreader https://ift.tt/2IeZskH
via IFTTT
Are You There for Me? Joint Engagement and Emotional Availability in Parent–Child Interactions for Toddlers With Moderate Hearing Loss
from #Audiology via ola Kala on Inoreader https://ift.tt/2Igv8WU
via IFTTT
Effects of Additional Low-Pass–Filtered Speech on Listening Effort for Noise-Band–Vocoded Speech in Quiet and in Noise
from #Audiology via ola Kala on Inoreader https://ift.tt/2IbE0RC
via IFTTT
Tinnitus Severity Is Related to the Sound Exposure of Symphony Orchestra Musicians Independently of Hearing Impairment
from #Audiology via ola Kala on Inoreader https://ift.tt/2Ih40aj
via IFTTT
A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.
Related Articles |
A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.
Genomics. 2018 May 09;:
Authors: Taghipour-Sheshdeh A, Nemati-Zargaran F, Zarepour N, Tahmasebi P, Saki N, Tabatabaiefar MA, Mohammadi-Asl J, Hashemzadeh-Chaleshtori M
Abstract
BACKGROUND AND AIMS: Hearing loss (HL) is the most common sensorineural disorder and one of the most common human defects. HL can be classified according to main criteria, including: the site (conductive, sensorineural and mixed), onset (pre-lingual and post-lingual), accompanying signs and symptoms (syndromic and non-syndromic), severity (mild, moderate, severe and profound) and mode of inheritance (Autosomal recessive, autosomal dominant, X-linked and mitochondrial). Autosomal recessive non-syndromic HL (ARNSHL) forms constitute a major share of the HL cases. In the present study, next-generation sequencing (NGS) was applied to investigate the underlying etiology of HL in a multiplex ARNSHL family from Khuzestan province, southwest Iran.
METHODS: In this descriptive study, 20 multiplex ARNSHL families from Khuzestan province, southwest of Iran were recruited. After DNA extraction, genetic linkage analysis (GLA) was applied to screen for a panel of more prevalent loci. One family, which was not linked to these loci, was subjected to Otogenetics deafness Next Generation Sequencing (NGS) panel.
RESULTS: NGS results showed a novel deletion-insertion variant (c.1555delinsAA) in the MARVELD2 gene. The variant which is a frameshift in the seventh exon of the MARVELD2 gene fulfills the criteria of being categorized as pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guideline.
CONCLUSION: NGS is very promising to identify the molecular etiology of highly heterogeneous diseases such as HL. MARVELD2 might be important in the etiology of HL in this region of Iran.
PMID: 29752989 [PubMed - as supplied by publisher]
from #Audiology via xlomafota13 on Inoreader https://ift.tt/2IzDQmC
via IFTTT