Results 21 to 30 of about 675 (134)

Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient. [PDF]

J Clin Lab Anal, 2023
New compound heterozygous PTPRQ gene mutations, nonsense (c.90C>A, p.Y30X) and splice (c.5426+1G>A) mutations in two PTPRQ alleles, were identified in the two sisters and were presumably autosomal recessive. This study increases the spectrum of PTPRQ gene mutations that might be involved in delayed progressive autosomal recessive non‐syndromic hearing ...
Qin Y, Ma Y, Zeng Z, Zhong Z, Qi Y, Liu Y.   +5 more
europepmc   +2 more sources

Treating Hearing Loss: From Cochlear Implantation to Gene Therapy. [PDF]

Adv Sci (Weinh)
Cochlear implantation is the primary treatment for deafness, restoring functional hearing in over a million people. Recently, gene therapy has enabled biological hearing restoration in a small number of patients with OTOF‐related mutations. This perspective evaluates both approaches, concluding that cochlear implants will remain the standard for most ...
Zeng FG, Qi J, Wu CC, Shu Y, Chai R.
europepmc   +2 more sources

Comprehensive Analysis and Genetic Insights Into GJB2 c.35delG Mutation-Associated Non-Syndromic Hearing Loss in Morocco. [PDF]

OTO Open
Abstract Objective To assess the prevalence of the GJB2 c.35delG mutation among Moroccan patients with nonsyndromic sensorineural hearing loss (NSHL) and compare it with frequencies reported in other North African populations. Study Design Retrospective cohort study. Setting Multidisciplinary tertiary care hearing loss genetics clinic.
Salman EM, Qabli ME, Soufian L, Mansouri M, Bouzid FZ, Oulghoul O, Chehbouni M, Lakhdar Y, Rochdi Y, Raji A, Aboussair N.   +10 more
europepmc   +2 more sources

A Novel <i>LMX1A</i> Frameshift Variant Underlies Familial Phenotypic Heterogeneity in DFNA7. [PDF]

Hum Mutat
Pathogenic variants in the LIM‐homeodomain transcription factor LMX1A represent a rare yet critical etiology for autosomal dominant nonsyndromic hearing loss 7 (DFNA7) and less frequently, its autosomal recessive counterpart (ARNSHL). Here, we describe a novel heterozygous frameshift variant, LMX1A c.405delT (p.Phe135LeufsTer3), identified in a three ...
Xu C, Nie Z, Wang S, Zhu Y, Liu X, Guo Y.   +5 more
europepmc   +2 more sources

GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran. [PDF]

J Clin Lab Anal, 2021
The data from the 50 families in Ardebil Province with ARNSHL were analyzed, and GJB2 mutations were detected in 13 (26%) of the families. The blood sample was taken from the patients with their consent, and DNA extraction was carried out. Screening of 35delG was performed using ARMS‐PCR, and eight of the families were observed with 35delG in the ...
Abbaspour Rodbaneh E, Panahi M, Rahimi B, Mokabber H, Farajollahi R, Davarnia B.   +5 more
europepmc   +2 more sources

A Novel Mutation Located in the N-Terminal Domain of MYO15A Caused Sensorineural Hearing Loss. [PDF]

Mol Genet Genomic Med
Two iPSCs were generated separately from the proband and a mutation‐negative family member, and those were then induced to hair cell‐like cells to examine the effects of the MYO15A mutation (c.2482C>T) on the morphology and function of those cells. Results demonstrate that the novel mutation may cause inner ear hair cell dysfunction and audiological ...
Wang Y, Liu Z, Li Y, Nie Z, Xu B, Zhu Y, Duan S, Chen X, Tan H, Dang J, Guan M, Guo Y.   +11 more
europepmc   +2 more sources

Linkage Analysis for 50 Iranian Families with Autosomal Recessive Non-Syndromic Hearing Loss for DFNB21 Locus

Journal of Rehabilitation, 2006
Objective: Congenital hearing loss occurs in 1 out of 1000 births and about 50% of all cases are estimated to be of genetic origin. About 70% of hereditary hearing loss is non-syndromic with autosomal recessive inheritance accounting for 80% of the ...
Parisa Imani-Raad, Kimia Kahrizi, Niloufar Bazzaz-Zadegan, Marzieh Mohseni, Golnaz As'adi, Noushin Nik-Zaat, Fatemeh Sadat Esteghamat, Hossein Najm-Abadi   +7 more
doaj   +1 more source

Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades. [PDF]

J Cell Mol Med
Abstract Hearing loss is a clinically and genetically heterogeneous disorder, with over 148 genes and 170 loci associated with its pathogenesis. The spectrum and frequency of causal variants vary across different genetic ancestries and are more prevalent in populations that practice consanguineous marriages.
Shadab M, Abbasi AA, Ejaz A, Ben-Mahmoud A, Gupta V, Kim HG, Vona B.   +6 more
europepmc   +2 more sources

Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next‐generation sequencing in a Chinese family with nonsyndromic hearing loss

Journal of Clinical Laboratory Analysis, Volume 36, Issue 11, November 2022., 2022
This study describes a novel c.5994G > T (p.Trp1998Cys) missense variant and reported, for the first time, a synonymous coding base change c.2904G > A (p.Glu968=) variant within MYO7A in a patient with nonsyndromic hearing loss (DFNB2 phenotype). The in vitro minigene expression indicated that p.Glu968= could cause skipping over exon 23, which was ...
Yanbao Xiang, Chenyang Xu, Yunzhi Xu, Lili Zhou, Shaohua Tang, Xueqin Xu   +5 more
wiley   +1 more source

A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss

Annals of Human Genetics, Volume 86, Issue 4, Page 207-217, July 2022., 2022
Abstract Aim Autosomal dominant non‐syndromic hearing loss is a common sensorineural disorder with extremely high genetic heterogeneity. CEA antigen‐related cell adhesion molecule 16(CEACAM16)is a secreted glycoprotein encoded by the CEACAM16 gene. Mutations in CEACAM16 lead to autosomal dominant non‐syndromic hearing loss in humans, due defects in the
Dejun Zhang, Jie Wu, Yongyi Yuan, Xiaohong Li, Xue Gao, Mingyu Han, Song Gao, Shasha Huang, Pu Dai   +8 more
wiley   +1 more source