Literature DB >> 22218850

Genetics of hearing loss: where are we standing now?

Hossein Mahboubi1, Sami Dwabe, Matthew Fradkin, Virginia Kimonis, Hamid R Djalilian.   

Abstract

Hearing loss (HL) is the most common sensory impairment and is caused by a broad range of inherited to environmental causes. Inherited HL consists 50-60% of all HL cases. The inherited form of HL is further classified to different categories. More than 300 syndromes and 40 genes have been identified to result in different levels of HL. Although several diagnostic or screening tests have been developed, yet there are controversies around their use.

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Year:  2012        PMID： 22218850     DOI： 10.1007/s00405-011-1910-6

Source DB:  PubMed          Journal:  Eur Arch Otorhinolaryngol        ISSN： 0937-4477            Impact factor:   2.503


  49 in total

Review 1.  A genetic approach to the child with sensorineural hearing loss.

Authors:  Heidi L Rehm
Journal:  Semin Perinatol       Date:  2005-06       Impact factor: 3.300

Review 2.  Autosomal dominant nonsyndromic hearing impairment.

Authors:  L Van Laer; W T McGuirt; T Yang; R J Smith; G Van Camp
Journal:  Am J Med Genet       Date:  1999-09-24

Review 3.  Genetic epidemiology of hearing impairment.

Authors:  N E Morton
Journal:  Ann N Y Acad Sci       Date:  1991       Impact factor: 5.691

4.  Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.

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Journal:  Lancet       Date:  1999-04-17       Impact factor: 79.321

5.  Usher syndrome: clinical findings and gene localization studies.

Authors:  W J Kimberling; C G Möller; S L Davenport; G Lund; T J Grissom; I Priluck; V White; M D Weston; K Biscone-Halterman; P E Brookhouser
Journal:  Laryngoscope       Date:  1989-01       Impact factor: 3.325

6.  Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S).

Authors:  Vedat Topsakal; Ronald J E Pennings; Heleen te Brinke; Ben Hamel; Patrick L M Huygen; Hannie Kremer; Cor W R J Cremers
Journal:  Otol Neurotol       Date:  2005-01       Impact factor: 2.311

7.  A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations.

Authors:  Markus Pfister; Holger Thiele; Guy Van Camp; Erik Fransen; Fazil Apaydin; Omer Aydin; Peter Leistenschneider; Marcella Devoto; Hans-Peter Zenner; Nikolaus Blin; Peter Nürnberg; Haluk Ozkarakas; Susan Kupka
Journal:  Cell Physiol Biochem       Date:  2004

Review 8.  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

9.  Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.

Authors:  A L DeStefano; L A Cupples; K S Arnos; J H Asher; C T Baldwin; S Blanton; M L Carey; E O da Silva; T B Friedman; J Greenberg; A K Lalwani; A Milunsky; W E Nance; A Pandya; R S Ramesar; A P Read; M Tassabejhi; E R Wilcox; L A Farrer
Journal:  Hum Genet       Date:  1998-05       Impact factor: 4.132

Review 10.  Advances in molecular and cellular therapies for hearing loss.

Authors:  Michael S Hildebrand; Stephen S Newton; Samuel P Gubbels; Abraham M Sheffield; Amit Kochhar; Michelle G de Silva; Hans-Henrik M Dahl; Scott D Rose; Mark A Behlke; Richard J H Smith
Journal:  Mol Ther       Date:  2007-11-27       Impact factor: 11.454
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  9 in total

1.  A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine.

Authors:  Se-Kyung Oh; Jeong-In Baek; Karl M Weigand; Hanka Venselaar; Herman G P Swarts; Seong-Hyun Park; Muhammad Hashim Raza; Da Jung Jung; Soo-Young Choi; Sang-Heun Lee; Thomas Friedrich; Gert Vriend; Jan B Koenderink; Un-Kyung Kim; Kyu-Yup Lee
Journal:  Eur J Hum Genet       Date:  2014-08-20       Impact factor: 4.246

Review 2.  Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward.

Authors:  Kamogelo Lebeko; Jason Bosch; Jean Jacques Nzeale Noubiap; Collet Dandara; Ambroise Wonkam
Journal:  Pan Afr Med J       Date:  2015-04-17

Review 3.  Hearing impairment and language delay in infants: Diagnostics and genetics.

Authors:  Ruth Lang-Roth
Journal:  GMS Curr Top Otorhinolaryngol Head Neck Surg       Date:  2014-12-01

4.  Genetic frequencies related to severe or profound sensorineural hearing loss in Inner Mongolia Autonomous Region.

Authors:  Yongzhi Liu; Liying Ao; Haitao Ding; Dongli Zhang
Journal:  Genet Mol Biol       Date:  2016-10-10       Impact factor: 1.771

5.  Fluvastatin protects cochleae from damage by high-level noise.

Authors:  Claus-Peter Richter; Hunter Young; Sonja V Richter; Virginia Smith-Bronstein; Stuart R Stock; Xianghui Xiao; Carmen Soriano; Donna S Whitlon
Journal:  Sci Rep       Date:  2018-02-14       Impact factor: 4.379

6.  Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population.

Authors:  Amal Souissi; Mariem Ben Said; Ikhlas Ben Ayed; Ines Elloumi; Amal Bouzid; Mohamed Ali Mosrati; Mehdi Hasnaoui; Malek Belcadhi; Nabil Idriss; Hassen Kamoun; Nourhene Gharbi; Abdullah A Gibriel; Abdelaziz Tlili; Saber Masmoudi
Journal:  J Adv Res       Date:  2021-01-12       Impact factor: 10.479

7.  Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans.

Authors:  Nari Ryu; Borum Sagong; Hong-Joon Park; Min-A Kim; Kyu-Yup Lee; Jae Young Choi; Un-Kyung Kim
Journal:  BMC Med Genet       Date:  2016-01-22       Impact factor: 2.103

8.  Successful preimplantation genetic diagnosis by targeted next-generation sequencing on an ion torrent personal genome machine platform.

Authors:  Yan Hao; Dawei Chen; Zhiguo Zhang; Ping Zhou; Yunxia Cao; Zhaolian Wei; Xiaofeng Xu; Beili Chen; Weiwei Zou; Mingrong Lv; Dongmei Ji; Xiaojin He
Journal:  Oncol Lett       Date:  2018-01-26       Impact factor: 2.967

9.  Selective ablation of pillar and deiters' cells severely affects cochlear postnatal development and hearing in mice.

Authors:  Marcia M Mellado Lagarde; Brandon C Cox; Jie Fang; Ruth Taylor; Andrew Forge; Jian Zuo
Journal:  J Neurosci       Date:  2013-01-23       Impact factor: 6.167
  9 in total

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