Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss
Clinical Genetics, Volume 98, Issue 1, Page 32-42, July 2020., 2020 Abstract Nonsyndromic hearing loss is an extremely heterogeneous disorder. Thus, clinical diagnostics is challenging, in particular due to differences in the etiology of hearing loss between populations. With this study, we wanted to elucidate the genetic basis of hearing loss in 61 consanguineous Egyptian families. In 25 families, linkage analysis was
Birgit S. Budde +15 more
wiley +1 more source
Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss. [PDF]
PLoS ONE, 2014 Tight junctions (TJs) are essential components of eukaryotic cells, and serve as paracellular barriers and zippers between adjacent tissues. TJs are critical for normal functioning of the organ of Corti, a part of the inner ear that causes loss of ...
Min-A Kim +10 more
doaj +1 more source
Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE. [PDF]
PLoS ONE, 2014 Mutations in the autosomal genes TMPRSS3, TMC1, USHIC, CDH23 and TMIE are known to cause hereditary hearing loss. To study the contribution of these genes to autosomal recessive, non-syndromic hearing loss (ARNSHL) in India, we examined 374 families with
Aparna Ganapathy +13 more
doaj +1 more source
Pedigree and sequence analysis of an ARNSHL family.
, 2015 (A) Pedigree of the ARNSHL family. N, normal; M, the MYO15A c.9316dupC variant. (B) The homozygous MYO15A c.9316dupC variant of the affected individual (IV:2). (C) The heterozygous MYO15A c.9316dupC variant of the unaffected individual (III:1).
Hong Xia (50641) +8 more
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A) The exome coverage of the 39 ARNSHL genes.
, 2012 The plots are the average of the fraction of covered bases (Y-axis) and the read depth (X-axis) in the 20 families included in the study. B) Average sequence coverage (base 10 logarithmic scale) of ARNSHL genes.
Duygu Duman (114660) +14 more
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Phenotypes and genotypes of the ARNSHL family.
, 2015 A, abnormality; ABR, auditory brainstem responses; AR, acoustic reflex; Bil, bilateral; DPOAE, distortion product otoacoustic emissions; L, left; MRI, magnetic resonance imaging; MYO15A, the myosin XVa gene; R, right; y, years; +, presence ...
Hong Xia (50641) +8 more
core +1 more source
A novel variant of SLC26A4 and first report of the c.716T>A variant in Iranian pedigrees with non-syndromic sensorineural hearing loss [PDF]
, 2018 The autosomal recessive non-syndromic hearing loss (ARNSHL) can be associated with variants in solute carrier family 26, member 4 (SLC26A4) gene and is the second most common cause of ARNSHL worldwide.
Azadegan-Dehkordi, F +6 more
core +3 more sources
Chinese Clinical Practice Guidelines for Auditory Neuropathy (gCAN)
World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 12, Issue 1, Page 1-24, February 2026.ABSTRACT Auditory neuropathy (AN) is an auditory disorder that affects the function of the auditory pathway. An increasing number of AN cases have been identified with the revelation of the underlying mechanisms, the advancements of diagnostic and detecting techniques.
Chinese Multi‐Center Research Collaborative Group on Clinical Diagnosis and Intervention of Auditory Neuropathy +5 more
wiley +1 more source
Clinical Medicine Insights: Case Reports, 2019 Introduction: Autosomal recessive non-syndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder with an approximate incidence of 1.4:1000 in neonates. Mutations in more than 60 genes including the MYO15A gene has been reported
Elinaz Akbariazar +2 more
doaj +1 more source
Genetic linkage analysis of DFNB40 and DFNB48 loci in families with autosomal recessive non-syndromic hearing loss (ARNSHL) from western provinces of Iran [PDF]
, 2016 Background: Sensorineural hearing loss (SNHL) is the most common sensory disorder and 1 in every 500-1000 newborns is affected. Non-syndromic SNHL accounts for 70% of hereditary hearing loss and 80% of SNHL cases have an autosomal recessive mode of ...
Reiisi, Somayeh. +5 more
core +1 more source