Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

Human Genetics
Zubair M AhmedThomas B Friedman

Abstract

Mutations of PCDH15, encoding protocadherin 15, can cause either combined hearing and vision impairment (type 1 Usher syndrome; USH1F) or nonsyndromic deafness (DFNB23). Human PCDH15 is reported to be composed of 35 exons and encodes a variety of isoforms with 3-11 ectodomains (ECs), a transmembrane domain and a carboxy-terminal cytoplasmic domain (CD). Building on these observations, we describe an updated gene structure that has four additional exons of PCDH15 and isoforms that can be subdivided into four classes. Human PCDH15 encodes three alternative, evolutionarily conserved unique cytoplasmic domains (CD1, CD2 or CD3). Families ascertained on the basis of prelingual hearing loss were screened for linkage of this phenotype to markers for PCDH15 on chromosome 10q21.1. In seven of twelve families segregating USH1, we identified homozygous mutant alleles (one missense, one splice site, three nonsense and two deletion mutations) of which six are novel. One family was segregating nonsyndromic deafness DFNB23 due to a homozygous missense mutation. To date, in our cohort of 557 Pakistani families, we have found 11 different PCDH15 mutations that account for deafness in 13 families. Molecular modeling provided mechanistic insight ...Continue Reading

References

Jan 1, 1991·Annals of the New York Academy of Sciences·N E Morton
Mar 1, 1990·Journal of Molecular Graphics·G Vriend
Mar 1, 1994·American Journal of Medical Genetics·R J SmithL Tranebjaerg
Jun 9, 2001·American Journal of Human Genetics·Z M AhmedE R Wilcox
Aug 7, 2001·Human Molecular Genetics·K N AlagramamG S Hagemen
Nov 10, 2001·Annual Review of Genomics and Human Genetics·C Petit
Apr 25, 2003·The New England Journal of Medicine·Tamar Ben-YosefThomas B Friedman
Aug 27, 2003·Investigative Ophthalmology & Visual Science·Sherry L BallKumar N Alagramam
Oct 4, 2003·Science·Wanzhong HeDavid L Stokes
Jun 27, 2006·Investigative Ophthalmology & Visual Science·Ricky J L Haywood-WatsonThomas B Friedman
Jun 30, 2006·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Zubair M AhmedThomas B Friedman
Sep 12, 2006·Journal of Medical Genetics·Frans P M CremersHannie Kremer
Oct 7, 2006·Proceedings of the National Academy of Sciences of the United States of America·A K PrakasamD E Leckband
Aug 21, 2007·Genomics·Kumar N AlagramamRichard J Smith
May 29, 2008·Clinical Genetics·Z M AhmedT B Friedman

❮ Previous
Next ❯

Citations

Jun 22, 2012·Journal of Human Genetics·Thomas J JaworekZubair M Ahmed
Jul 9, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·William J KimberlingRichard J H Smith
Feb 26, 2010·Cold Spring Harbor Perspectives in Biology·Aziz El-Amraoui, Christine Petit
Jun 21, 2013·Journal of Medical Genetics·Alejandro A Schäffer
Mar 1, 2012·PloS One·Marisa ZallocchiDominic Cosgrove
May 6, 2014·Trends in Cell Biology·Marcos SotomayorDavid P Corey
Oct 14, 2014·The Journal of Molecular Diagnostics : JMD·Cynthia Perreault-MicaleValerie Greger
Oct 9, 2015·Journal of Medical Genetics·Christina M Sloan-HeggenHossein Najmabadi
Nov 14, 2008·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Roberto Flores-GuevaraPascal Richard
Jun 1, 2010·Human Mutation·Christel VachéAnne-Françoise Roux
Feb 6, 2014·Molecular Genetics & Genomic Medicine·Thomas BesnardAnne-Françoise Roux
Jan 6, 2015·Evolutionary Applications·Jon E HessShawn R Narum
Nov 19, 2013·The International Journal of Biochemistry & Cell Biology·Dominic Cosgrove, Marisa Zallocchi
Jul 5, 2016·Human Mutation·Atteeq U RehmanThomas B Friedman
Sep 23, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sami S AmrAhmad N Abou Tayoun
Mar 11, 2017·Genetic Testing and Molecular Biomarkers·Rongrong WangXue Zhang
Mar 25, 2018·Journal of Medical Genetics·Zubair M AhmedSaima Riazuddin
Aug 30, 2017·Cold Spring Harbor Perspectives in Biology·Avinash JaiganeshMarcos Sotomayor
May 13, 2020·Molecular Genetics & Genomic Medicine·Barbara LombardoCristina Mazzaccara
Sep 19, 2019·Scientific Reports·Javier OrozMariano Carrión-Vázquez
Dec 22, 2010·Cell Adhesion & Migration·Soo-Young KimHyun Kim
Aug 1, 2018·Proceedings of the National Academy of Sciences of the United States of America·Akira HondaRaj K Ladher
Aug 1, 2020·Frontiers in Cellular Neuroscience·Lucy S FrenchLivia S Carvalho
Nov 17, 2020·Frontiers in Genetics·Meg WhatleyElaine Y M Wong
May 4, 2013·Journal of Cell Science·Carole M Hackney, David N Furness
May 1, 2021·International Journal of Molecular Sciences·Evan M de JoyaXuezhong Liu
May 18, 2021·Trends in Molecular Medicine·Ettaib El Marabti, Omar Abdel-Wahab
Jul 3, 2021·International Journal of Molecular Sciences·Carla Fuster-GarcíaGema García-García
Aug 28, 2021·Genes·Roxane Van HeurckAriane Paoloni-Giacobino
Sep 17, 2009·Current Opinion in Otolaryngology & Head and Neck Surgery
Apr 20, 2010·Neuron·Marcos SotomayorDavid P Corey

❮ 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.