Literature DB >> 26663965

Genetics of non syndromic hearing loss.

M D Venkatesh1, Nikhil Moorchung2, Bipin Puri3.   

Abstract

Non Syndromic Hearing Loss is an important cause for hearing loss. One in 1000 newborns have some hearing impairment. Over 400 genetic syndromes have been described. Non Syndromic Hearing Loss (NSHL) can be inherited in an Autosomal Dominant, Autosomal Recessive or a Sex Linked fashion. There are several reasons why genetic testing should be done in cases of NSHL, the main reasons being for genetic screening and for planning treatment. This review describes the genes involved in NSHL and the genetic mechanisms involved in the pathogenesis of the disease.

Entities:  

Keywords:  Genetics; Mutations; NSHL

Year:  2015        PMID： 26663965      PMCID： PMC4646903          DOI： 10.1016/j.mjafi.2015.07.003

Source DB:  PubMed          Journal:  Med J Armed Forces India        ISSN： 0377-1237


  22 in total

1.  Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia.

Authors:  A Pandya; X J Xia; R Erdenetungalag; M Amendola; B Landa; J Radnaabazar; B Dangaasuren; G Van Tuyle; W E Nance
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

Review 2.  Cochlear implantation in common forms of genetic deafness.

Authors:  Richard J Vivero; Kenneth Fan; Simon Angeli; Thomas J Balkany; Xue Z Liu
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2010-07-22       Impact factor: 1.675

3.  GJB2 mutations and degree of hearing loss: a multicenter study.

Authors:  Rikkert L Snoeckx; Patrick L M Huygen; Delphine Feldmann; Sandrine Marlin; Françoise Denoyelle; Jaroslaw Waligora; Malgorzata Mueller-Malesinska; Agneszka Pollak; Rafal Ploski; Alessandra Murgia; Eva Orzan; Pierangela Castorina; Umberto Ambrosetti; Ewa Nowakowska-Szyrwinska; Jerzy Bal; Wojciech Wiszniewski; Andreas R Janecke; Doris Nekahm-Heis; Pavel Seeman; Olga Bendova; Margaret A Kenna; Anna Frangulov; Heidi L Rehm; Mustafa Tekin; Armagan Incesulu; Hans-Henrik M Dahl; Desirée du Sart; Lucy Jenkins; Deirdre Lucas; Maria Bitner-Glindzicz; Karen B Avraham; Zippora Brownstein; Ignacio del Castillo; Felipe Moreno; Nikolaus Blin; Markus Pfister; Istvan Sziklai; Timea Toth; Philip M Kelley; Edward S Cohn; Lionel Van Maldergem; Pascale Hilbert; Anne-Françoise Roux; Michel Mondain; Lies H Hoefsloot; Cor W R J Cremers; Tuija Löppönen; Heikki Löppönen; Agnete Parving; Karen Gronskov; Iris Schrijver; Joseph Roberson; Francesca Gualandi; Alessandro Martini; Geneviéve Lina-Granade; Nathalie Pallares-Ruiz; Céu Correia; Graça Fialho; Kim Cryns; Nele Hilgert; Paul Van de Heyning; Carla J Nishimura; Richard J H Smith; Guy Van Camp
Journal:  Am J Hum Genet       Date:  2005-10-19       Impact factor: 11.025

4.  Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.

Authors:  P M Kelley; D J Harris; B C Comer; J W Askew; T Fowler; S D Smith; W J Kimberling
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

5.  Language of early- and later-identified children with hearing loss.

Authors:  C Yoshinaga-Itano; A L Sedey; D K Coulter; A L Mehl
Journal:  Pediatrics       Date:  1998-11       Impact factor: 7.124

6.  Deafness due to A1555G mitochondrial mutation without use of aminoglycoside.

Authors:  Tatsuo Matsunaga; Hiroshi Kumanomido; Masae Shiroma; Akihiro Ohtsuka; Kenji Asamura; Shin-Ichi Usami
Journal:  Laryngoscope       Date:  2004-06       Impact factor: 3.325

Review 7.  Clinical aspects of hereditary hearing loss.

Authors:  Amit Kochhar; Michael S Hildebrand; Richard J H Smith
Journal:  Genet Med       Date:  2007-07       Impact factor: 8.822

8.  Language ability after early detection of permanent childhood hearing impairment.

Authors:  Colin R Kennedy; Donna C McCann; Michael J Campbell; Catherine M Law; Mark Mullee; Stavros Petrou; Peter Watkin; Sarah Worsfold; Ho Ming Yuen; Jim Stevenson
Journal:  N Engl J Med       Date:  2006-05-18       Impact factor: 91.245

Review 9.  High-throughput sequencing to decipher the genetic heterogeneity of deafness.

Authors:  Zippora Brownstein; Yoni Bhonker; Karen B Avraham
Journal:  Genome Biol       Date:  2012-05-29       Impact factor: 13.583

10.  Connexin-26 mutations in sporadic and inherited sensorineural deafness.

Authors:  X Estivill; P Fortina; S Surrey; R Rabionet; S Melchionda; L D'Agruma; E Mansfield; E Rappaport; N Govea; M Milà; L Zelante; P Gasparini
Journal:  Lancet       Date:  1998-02-07       Impact factor: 79.321
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  15 in total

1.  Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss.

Authors:  Xin Zhang Cai; Ying Li; Lu Xia; Yu Peng; Chu Feng He; Lu Jiang; Yong Feng; Kun Xia; Xue Zhong Liu; Ling Yun Mei; Zheng Mao Hu
Journal:  J Hum Genet       Date:  2016-08-18       Impact factor: 3.172

Review 2.  Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.

Authors:  Manisha Ray; Saurav Sarkar; Mukund Namdev Sable
Journal:  J Pediatr Genet       Date:  2021-12-14

3.  Volumetric Analysis of Hearing-Related Structures of Brain in Children with GJB2-Related Congenital Deafness.

Authors:  Matthias W Wagner; Sharon L Cushing; Makabongwe Tshuma; Karen A Gordon; Birgit B Ertl-Wagner; Logi Vidarsson
Journal:  Children (Basel)       Date:  2022-05-30

Review 4.  Recent Advancements in the Regeneration of Auditory Hair Cells and Hearing Restoration.

Authors:  Rahul Mittal; Desiree Nguyen; Amit P Patel; Luca H Debs; Jeenu Mittal; Denise Yan; Adrien A Eshraghi; Thomas R Van De Water; Xue Z Liu
Journal:  Front Mol Neurosci       Date:  2017-07-31       Impact factor: 5.639

5.  Detection of Mitochondrial Mutations Through Isothermal Nucleic Acid Amplification Coupled With Clustered Regularly Interspaced Short Palindromic Repeat-Associated Endonuclease Cas13a.

Authors:  Hua Jiang; Kun Duan; Xu Han; Jun Wang; Xiao Liu; Maoxiao Yan; Yunxiu Wang; Hongyan Liu; Huiling Shi; Xiaoqing Gao; Chuan Ouyang; Xue Fu; Xinxin Zhang; Chao Liu
Journal:  Front Genet       Date:  2021-01-12       Impact factor: 4.599

Review 6.  Hereditary Hearing Impairment with Cutaneous Abnormalities.

Authors:  Tung-Lin Lee; Pei-Hsuan Lin; Pei-Lung Chen; Jin-Bon Hong; Chen-Chi Wu
Journal:  Genes (Basel)       Date:  2020-12-30       Impact factor: 4.096

7.  First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss.

Authors:  Berk Özyılmaz; Gül Caner Mercan; Özgür Kırbıyık; Taha Reşid Özdemir; Samira Özkara; Özge Özer Kaya; Yaşar Bekir Kutbay; Kadri Murat Erdoğan; Merve Saka Güvenç; Altuğ Koç
Journal:  Turk Arch Otorhinolaryngol       Date:  2019-09-01

8.  Whole exome sequencing identifies rare coding variants in novel human-mouse ortholog genes in African individuals diagnosed with non-syndromic hearing impairment.

Authors:  Oluwafemi G Oluwole; Kevin K Esoh; Edmond Wonkam-Tingang; Noluthando Manyisa; Jean Jacques Noubiap; Emile R Chimusa; Ambroise Wonkam
Journal:  Exp Biol Med (Maywood)       Date:  2020-09-30

9.  Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF.

Authors:  Athar Khalil; Samer Bou Karroum; Rana Barake; Gabriel Dunya; Samer Abou-Rizk; Amina Kamar; Georges Nemer; Marc Bassim
Journal:  BMC Med Genet       Date:  2020-01-02       Impact factor: 2.103

Review 10.  Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy.

Authors:  Meg Whatley; Abbie Francis; Zi Ying Ng; Xin Ee Khoh; Marcus D Atlas; Rodney J Dilley; Elaine Y M Wong
Journal:  Front Genet       Date:  2020-10-22       Impact factor: 4.599
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