Literature DB >> 18005182

Sex-linked deafness.

M B Petersen1, Q Wang, P J Willems.   

Abstract

Many human syndromes associated with hearing loss are caused by disease genes located on the X chromosome, but few X-linked loci for non-syndromic hearing loss have been reported. Surprisingly, a Y-linked locus has been identified, representing one of the only disease loci on the Y chromosome. This study reviews the different sex-linked genes and loci on the X- and Y chromosome leading to syndromic and especially non-syndromic hearing loss.

Entities:  

Mesh：

Year:  2007        PMID： 18005182     DOI： 10.1111/j.1399-0004.2007.00913.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  27 in total

Review 1.  Genetics of hearing loss: where are we standing now?

Authors:  Hossein Mahboubi; Sami Dwabe; Matthew Fradkin; Virginia Kimonis; Hamid R Djalilian
Journal:  Eur Arch Otorhinolaryngol       Date:  2012-01-05       Impact factor: 2.503

2.  A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family.

Authors:  Yuyuan Deng; Zhijie Niu; LiangLiang Fan; Jie Ling; Hongsheng Chen; Xinzhang Cai; Lingyun Mei; Chufeng He; Xuewei Zhang; Jie Wen; Meng Li; Wu Li; Taoxi Li; Shushan Sang; Yalan Liu; Yong Feng
Journal:  J Hum Genet       Date:  2018-03-20       Impact factor: 3.172

Review 3.  Hearing loss: a common disorder caused by many rare alleles.

Authors:  Dorith Raviv; Amiel A Dror; Karen B Avraham
Journal:  Ann N Y Acad Sci       Date:  2010-12       Impact factor: 5.691

4.  De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss.

Authors:  Hideaki Moteki; A Eliot Shearer; Shuji Izumi; Yamato Kubota; Hela Azaiez; Kevin T Booth; Christina M Sloan; Diana L Kolbe; Richard J H Smith; Shin-Ichi Usami
Journal:  Ann Otol Rhinol Laryngol       Date:  2015-03-19       Impact factor: 1.547

5.  Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.

Authors:  Antje K Huebner; Marta Gandia; Peter Frommolt; Anika Maak; Eva M Wicklein; Holger Thiele; Janine Altmüller; Florian Wagner; Antonio Viñuela; Luis A Aguirre; Felipe Moreno; Hannes Maier; Isabella Rau; Sebastian Giesselmann; Gudrun Nürnberg; Andreas Gal; Peter Nürnberg; Christian A Hübner; Ignacio del Castillo; Ingo Kurth
Journal:  Am J Hum Genet       Date:  2011-05-05       Impact factor: 11.025

6.  X-linked deafness-2 (DFNX2) phenotype associated with a paracentric inversion upstream of POU3F4.

Authors:  Gregory J Anger; Susan Crocker; Kyle McKenzie; Kerry K Brown; Cynthia C Morton; Karen Harrison; Jennifer J MacKenzie
Journal:  Am J Audiol       Date:  2014-03       Impact factor: 1.493

7.  [Hereditary hearing loss: Part 1: diagnostic overview and practical advice].

Authors:  W F Burke; T Lenarz; H Maier
Journal:  HNO       Date:  2013-04       Impact factor: 1.284

Review 8.  New Imaging Findings of Incomplete Partition Type III Inner Ear Malformation and Literature Review.

Authors:  R Hong; Q Du; Y Pan
Journal:  AJNR Am J Neuroradiol       Date:  2020-05-28       Impact factor: 3.825

9.  Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

Authors:  Julie M Schultz; Shaheen N Khan; Zubair M Ahmed; Saima Riazuddin; Ali M Waryah; Dhananjay Chhatre; Matthew F Starost; Barbara Ploplis; Stephanie Buckley; David Velásquez; Madhulika Kabra; Kwanghyuk Lee; Muhammad J Hassan; Ghazanfar Ali; Muhammad Ansar; Manju Ghosh; Edward R Wilcox; Wasim Ahmad; Glenn Merlino; Suzanne M Leal; Sheikh Riazuddin; Thomas B Friedman; Robert J Morell
Journal:  Am J Hum Genet       Date:  2009-07-02       Impact factor: 11.025

10.  Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice.

Authors:  Thomas Parzefall; Shaked Shivatzki; Danielle R Lenz; Birgit Rathkolb; Kathy Ushakov; Daphne Karfunkel; Yisgav Shapira; Michael Wolf; Manuela Mohr; Eckhard Wolf; Sibylle Sabrautzki; Martin Hrabé de Angelis; Moshe Frydman; Zippora Brownstein; Karen B Avraham
Journal:  Hum Mutat       Date:  2013-05-08       Impact factor: 4.878
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