Results 1 to 10 of about 675 (134)

Investigation of the GJB6 Deletion Mutations Del (GJB6-D13s1830) and Del (GJB6-D13s1854) in Iranian Patients with Autosomal-Recessive Non-Syndromic Hearing Loss (ARNSHL)

Brazilian Archives of Biology and Technology, 2016
Hearing loss (HL) is the most common inherited sensory disorder affecting about 1 in 1000 births. The first locus for nonsyndromic autosomal recessive HL is on chromosome 13q11-22.
Habib Onsori
exaly   +4 more sources

Deep analysis of the LRTOMTc.242G>A variant in non‐syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies [PDF]

Molecular Genetics & Genomic Medicine, 2021
Autosomal recessive non‐syndromic hearing loss (ARNSHL) is the most common inherited sensory impairment. It is particularly frequent in North African populations who have a high rate of consanguineous marriage.
Mohamed Ali Mosrati, Karima Fadhlaoui‐Zid, Amel Benammar‐Elgaaied, Abdullah Ahmed Gibriel, Mariem Ben Said, Saber Masmoudi   +5 more
doaj   +3 more sources

First clinical report of a rare PDZD7 nonsense variant and recurrent mutations in Iranian families with autosomal recessive non-syndromic hearing loss [PDF]

BMC Medical Genomics
Background Hereditary hearing loss (HHL) is a genetically heterogeneous disorder, with autosomal recessive non-syndromic hearing loss (ARNSHL) comprising a significant proportion of cases globally.
Hossein Ghasemi, Emran Esmaeilzadeh, Fateme Zahedi Abghari, Marzieh Mohseni, Erfan Akbarpoor, Hamid Reza Khorram Khorshid, Niloofar Bazazzadegan, Reza Najafipour   +7 more
doaj   +2 more sources

A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case [PDF]

BMC Medical Genomics, 2022
Background Hereditary hearing loss (HHL) is a common heterogeneous disorder affecting all ages, ethnicities, and genders. The most common form of HHL is autosomal recessive non-syndromic hearing loss (ARNSHL), in which there is no genotype–phenotype ...
Tohid Ghasemnejad, Mahmoud Shekari Khaniani, Jafar Nouri Nojadeh, Sima Mansoori Derakhshan   +3 more
doaj   +2 more sources

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. [PDF]

PLoS ONE, 2012
Identification of the pathogenic mutations underlying autosomal recessive nonsyndromic hearing loss (ARNSHL) is difficult, since causative mutations in 39 different genes have so far been reported. After excluding mutations in the most common ARNSHL gene,
Oscar Diaz-Horta, Duygu Duman, Joseph Foster, Aslı Sırmacı, Michael Gonzalez, Nejat Mahdieh, Nikou Fotouhi, Mortaza Bonyadi, Filiz Başak Cengiz, Ibis Menendez, Rick H Ulloa, Yvonne J K Edwards, Stephan Züchner, Susan Blanton, Mustafa Tekin   +14 more
doaj   +2 more sources

The clinical and genetic spectrum of twenty-six individuals with hearing loss affected by MYO15A variants [PDF]

Scientific Reports
Myosin XVA (MYO15A) is a member of the myosin superfamily that, as a motor protein, plays an essential role in actin polymerization at the tip of the stereocilia in hair cells. Variants in MYO15A are known to be the third most common reason for autosomal
Saeid Morovvati, Mina Mohammadi Sarband, Samaneh Doostmohammadi, Sima Rayat, Hessamaldin Emamdjomeh, Mohammad Farhadi, Alimohamad Asghari, Masoud Garshasbi, Masoumeh Falah   +8 more
doaj   +2 more sources

A novel frameshift variant in the TMPRSS3 gene causes nonsyndromic hearing loss in a consanguineous family [PDF]

BMC Medical Genomics
Background Hearing Loss (HL) is the most common sensorineural condition in humans. Mutations in the TMPRSS3 gene (DNFB8/10 locus) have been linked to autosomal recessive non-syndromic hearing loss (ARNSHL).
Nahid Rezaie, Saeedeh Sadat Ghazanfari, Seyede Mahsa Mousavikia, Nader Mansour Samaei, Morteza Oladnabi, Abdolazim Sarli, Teymoor Khosravi   +6 more
doaj   +2 more sources

Molecular diagnosis of non-syndromic hearing loss in seven Iranian families using whole-exome sequencing [PDF]

BMC Medical Genomics
Background Congenital hearing loss is a common and genetically diverse sensory disorder. Non-syndromic forms are often inherited in an autosomal recessive pattern, with the types and frequencies of clinically relevant variants differing across ...
Fateme Zahedi Abghari, Emran Esmaeilzadeh, Sajjad Biglari, Hossein Ghasemi, Marzieh Mohseni, Narges Shahmohammad, Hamid Reza Khorram Khorshid, Reza Najafipour   +7 more
doaj   +2 more sources

Evaluation of the GJB2 and GJB6 Polymorphisms with Autosomal Recessive Nonsyndromic Hearing Loss in Iranian Population [PDF]

Iranian Journal of Otorhinolaryngology, 2021
Introduction: Hearing loss (HL), with more than 100 gene loci, is the most common sensorineural defects in humans. The mutations in two GJB2 and GJB6 (Gap Junction Protein Beta 2, 6) genes are responsible for nearly 50% of autosomal recessive ...
Somayeh Ebrahimkhani, Golnaz Asaadi Tehrani   +1 more
doaj   +1 more source

Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss. [PDF]

PLoS ONE, 2015
Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder, generally manifested with prelingual hearing loss and absence of other clinical manifestations.
Hong Xia, Xiangjun Huang, Yi Guo, Pengzhi Hu, Guangxiang He, Xiong Deng, Hongbo Xu, Zhijian Yang, Hao Deng   +8 more
doaj   +1 more source