نتایج جستجو برای: myo15a

تعداد نتایج: 60  

2016
Somayeh Reiisi Mohammad Amin Tabatabaiefar Mohammad Hosein Sanati Morteza Hashemzadeh Chaleshtori

OBJECTIVES Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated in about half of autosomal recessive non-syndromic hearing loss (ARNSHL) cases, making this the most common cause of ARNSHL. For the latter form ...

2015
Hong Xia Xiangjun Huang Yi Guo Pengzhi Hu Guangxiang He Xiong Deng Hongbo Xu Zhijian Yang Hao Deng Mathias Toft

Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder, generally manifested with prelingual hearing loss and absence of other clinical manifestations. The aim of this study is to identify the pathogenic gene in a four-generation consanguineous Chinese family with ARNSHL. A novel homozygous variant, c.9316dupC (p.H3106Pfs*2), in the myoxin X...

2014
Sobia Shafique Saima Siddiqi Margit Schraders Jaap Oostrik Humaira Ayub Ammad Bilal Muhammad Ajmal Celia Zazo Seco Tim M. Strom Atika Mansoor Kehkashan Mazhar Syed Tahir A. Shah Alamdar Hussain Maleeha Azam Hannie Kremer Raheel Qamar

The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Pakistan is 1.6/1000 individuals. More than 50% of the families carry mutations in GJB2 while mutations in MYO15A account for about 5% of recessive deafness. In the present study a cohort of 30 ARNSHL families was initially screened for mutations in GJB2 and MYO15A. Homozygosity mapping was performed...

2015
Mun Young Chang Ah Reum Kim Nayoung K.D. Kim Chung Lee Kyoung Yeul Lee Woo-Sung Jeon Ja-Won Koo Seung Ha Oh Woong-Yang Park Dongsup Kim Byung Yoon Choi

Mutations of MYO15A are generally known to cause severe to profound hearing loss throughout all frequencies. Here, we found two novel MYO15A mutations, c.3871C>T (p.L1291F) and c.5835T>G (p.Y1945X) in an affected individual carrying congenital profound sensorineural hearing loss (SNHL) through targeted resequencing of 134 known deafness genes. The variant, p.L1291F and p.Y1945X, resided in the ...

MYO15A is the third most crucial gene in hereditary sensorineural hearing loss after GJB2 and SLC26A4. In the present study, we reviewed the prevalence of MYO15A mutations in patients with autosomal recessive non-syndromic hearing loss (ARNSHL). In this meta-analysis, we conducted a search of PubMed, Web of Science, Excerpta Medica Database, and Scopus, and identified the articles up to Septemb...

Journal: :iranian journal of basic medical sciences 0
somayeh reiisi department of genetics, faculty of basic sciences, university of shahrekord, shahrekord, iran mohammad amin tabatabaiefar medical genetics dept., isfahan university of medical sciences, medical genetics dept., national institute of genetic engineering and biotechnology (nigeb), isfahan, iran mohammad hosein sanati medical genetics dept., national institute of genetic engineering and biotechnology (nigeb) morteza hashemzadeh chaleshtori cellular and molecular research center, shahrekord university of medical sciences, shahrekord, iran

objective(s): non-syndromic sensorineural hearing loss (nshl) is a common disorder affecting approximately 1 in 500 newborns. this type of hearing loss is extremely heterogeneous and includes over 100 loci. mutations in the gjb2 gene have been implicated in about half of autosomal recessive nshl (arnshl) cases, making this the most common cause of arnshl. for the latter form of deafness, most f...

2014
Zied Riahi Crystel Bonnet Rim Zainine Malek Louha Yosra Bouyacoub Nadia Laroussi Mariem Chargui Rym Kefi Laurence Jonard Imen Dorboz Jean-Pierre Hardelin Sihem Belhaj Salah Jacqueline Levilliers Dominique Weil Kenneth McElreavey Odile Tanguy Boespflug Ghazi Besbes Sonia Abdelhak Christine Petit

Identification of the causative mutations in patients affected by autosomal recessive non syndromic deafness (DFNB forms), is demanding due to genetic heterogeneity. After the exclusion of GJB2 mutations and other mutations previously reported in Tunisian deaf patients, we performed whole exome sequencing in patients affected with severe to profound deafness, from four unrelated consanguineous ...

Objective(s): Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated in about half of autosomal recessive NSHL (ARNSHL) cases, making this the most common cause of ARNSHL. For the latter form of deafness, most f...

Journal: :International Journal of Pediatric Otorhinolaryngology 2021

Hereditary non-syndromic hearing loss (NSHL) has a high genetic heterogeneity with about 152 genes identified as associated molecular causes. The present study aimed to detect the possible damaging variants of deaf probands from six unrelated Chinese families. After excluding pathogenic/likely pathogenic in most common genes, GJB2 and SLC26A4, 12 prelingual deafness autosomal recessive inherita...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2017
Jianchao Li Yunyun He Meredith L Weck Qing Lu Matthew J Tyska Mingjie Zhang

Unconventional myosin 7a (Myo7a), myosin 7b (Myo7b), and myosin 15a (Myo15a) all contain MyTH4-FERM domains (myosin tail homology 4-band 4.1, ezrin, radixin, moesin; MF) in their cargo binding tails and are essential for the growth and function of microvilli and stereocilia. Numerous mutations have been identified in the MyTH4-FERM tandems of these myosins in patients suffering visual and heari...

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