Literature DB >> 28263784

Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.

Maria Pia Leone1, Pietro Palumbo2, Rocco Ortore3, Stefano Castellana4, Orazio Palumbo2, Salvatore Melchionda2, Teresa Palladino2, Raffaella Stallone2, Tommaso Mazza4, Roberto Cocchi3, Massimo Carella5.   

Abstract

The paper describes a putative digenic form of deafness in two siblings affected by non-syndromic hereditary hearing loss, detected by a Targeted resequencing approach. Given that a previous paper suggested TMPRSS3 and GJB2 genes as responsible for a digenic form of hearing loss, our data support and reinforce this hypothesis.
Copyright © 2017 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Digenic inheritance; Hearing loss; Targeted resequencing

Mesh：

Substances：

Year:  2017        PMID： 28263784     DOI： 10.1016/j.mcp.2017.03.001

Source DB:  PubMed          Journal:  Mol Cell Probes        ISSN： 0890-8508            Impact factor:   2.365


  3 in total

1.  Molecular diagnose of a large hearing loss population from China by targeted genome sequencing.

Authors:  Jie Wu; Zongfu Cao; Yu Su; Yang Wang; Ruikun Cai; Jiyue Chen; Bo Gao; Mingyu Han; Xiaohong Li; DeJun Zhang; Xue Gao; Shasha Huang; Quanfei Huang; Yongyi Yuan; Xu Ma; Pu Dai
Journal:  J Hum Genet       Date:  2022-08-19       Impact factor: 3.755

2.  Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.

Authors:  Isabelle Schrauwen; Imen Chakchouk; Anushree Acharya; Khurram Liaqat; Deborah A Nickerson; Michael J Bamshad; Khadim Shah; Wasim Ahmad; Suzanne M Leal
Journal:  BMC Med Genet       Date:  2018-07-20       Impact factor: 2.103

3.  Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss.

Authors:  Monika Ołdak; Urszula Lechowicz; Agnieszka Pollak; Dominika Oziębło; Henryk Skarżyński
Journal:  J Transl Med       Date:  2019-08-14       Impact factor: 5.531
  3 in total

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