The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

Nature Genetics
D WeilC Petit

Abstract

Hereditary non-syndromic profound deafness affects about 1 in 2000 children prior to language acquisition. In 80% of the cases, the mode of transmission is autosomal recessive. The number of genes involved in these recessive forms of isolated deafness (DFNB genes) has been estimated to between 30 and 100. So far, ten DFNB genes have been mapped to human chromosomes, one of which has been isolated. By linkage analysis of a single family whose members were affected with profound deafness, some of them presenting with vestibular dysfunction, DFNB2 has been mapped to chromosome 11q13 (ref. 3). The gene responsible for a form of Usher syndrome type I, USH1B, has been assigned to the same chromosomal region. Usher syndrome associates profound congenital deafness and vestibular dysfunction with retinitis pigmentosa. In the homologous murine region are located the shaker-1 mutations responsible for deafness and vestibular dysfunction. It has been demonstrated that the murine shaker-1 and human USH1B phenotypes result from mutations in the gene encoding myosin-VIIA. Based on mapping data as well as on the similarities between the phenotypes of DFNB2-affected patients and shaker-1 mouse mutants, we have proposed that a defective myosin-V...Continue Reading

References

Feb 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·M VidaudM Goossens
May 5, 1982·Journal of Molecular Biology·J Kyte, R F Doolittle
Oct 10, 1995·Proceedings of the National Academy of Sciences of the United States of America·T HassonM S Mooseker
Apr 16, 1996·Proceedings of the National Academy of Sciences of the United States of America·D WeilC Petit
Oct 1, 1996·Human Molecular Genetics·S WayneR J Smith
Aug 1, 1997·Anatomy and Embryology·I SahlyJ L Dufier

❮ Previous
Next ❯

Citations

Mar 29, 2002·Cell Motility and the Cytoskeleton·Michaella VelichkovaTama Hasson
Oct 17, 2002·Journal of Neurobiology·Jason C Caldwell, Daniel F Eberl
Sep 25, 2004·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Charlotte R RhodesKaren B Avraham
May 31, 2007·Pflügers Archiv : European journal of physiology·Lisa Grant, Paul A Fuchs
Nov 13, 2004·Human Genetics·Khushnooda RamzanSheikh Riazuddin
Oct 27, 2006·Human Genetics·Shahid Y KhanSheikh Riazuddin
Dec 3, 2003·Journal of the Association for Research in Otolaryngology : JARO·Ralph H Holme, Karen P Steel
Oct 16, 2003·Trends in Biochemical Sciences·Nobutaka Hirokawa, Reiko Takemura
Dec 19, 2002·Otolaryngologic Clinics of North America·Nicolas Gürtler, Anil K Lalwani
Nov 30, 1999·International Journal of Pediatric Otorhinolaryngology·R J Smith, G Van Camp
Dec 22, 1999·International Journal of Pediatric Otorhinolaryngology·R F MuellerN J Lench
Feb 3, 1998·Hearing Research·W YangS L Mansour
Mar 4, 1998·Current Opinion in Cell Biology·J P Baker, M A Titus
May 20, 1999·Clinical Genetics·N G Robertson, C C Morton
Jul 19, 2002·Clinical Genetics·M B Petersen
Jan 10, 2003·Clinical Genetics·A T DeWanS M Leal
Oct 10, 2013·European Journal of Human Genetics : EJHG·Zippora BrownsteinKaren B Avraham
Apr 10, 2010·Journal of Human Genetics·Denise Yan, Xue Z Liu
Mar 21, 1998·Nature Genetics·X C LiE R Wilcox
May 20, 1998·Nature Genetics·B Phimister
Jun 1, 1997·Nature Medicine·K B Avraham
Jun 21, 2001·Annals of Human Genetics·E L BearerC L Jackson
Apr 13, 2000·The New England Journal of Medicine·P J Willems
Apr 13, 2011·Proceedings of the National Academy of Sciences of the United States of America·Tsuyoshi SakaiMitsuo Ikebe
Nov 22, 2000·Microbial & Comparative Genomics·B S Shastry
Mar 13, 2002·The Laryngoscope·Yuya TamagawaKeiichi Ichimura
Dec 11, 1999·Current Opinion in Pediatrics·A B Skvorak Giersch, C C Morton
Aug 19, 2003·Ear and Hearing·Lut Van LaerGuy Van Camp
Mar 29, 2000·Archives of Disease in Childhood·W Reardon, R F Mueller
Mar 16, 2007·Journal of Medical Genetics·T JaijoJ M Millan
Aug 22, 2009·Annual Review of Genetics·Amiel A Dror, Karen B Avraham
Nov 10, 2001·Annual Review of Genomics and Human Genetics·C Petit
Oct 7, 2003·Annual Review of Genomics and Human Genetics·Thomas B Friedman, Andrew J Griffith
May 17, 2011·Orphanet Journal of Rare Diseases·Crystel BonnetFrançoise Denoyelle

❮ Previous
Next ❯

Related Concepts

Related Feeds

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.

Related Papers

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery
Michael N PakdamanDaniel J Lee
Investigative Ophthalmology & Visual Science
Seongjin SeoArlene V Drack
© 2021 Meta ULC. All rights reserved