Article
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.
Journal of medical genetics - 1 Nov 2011
Schultz Julie M, Bhatti Rashid, Madeo Anne C, Turriff Amy, Muskett Julie A, Zalewski Christopher K, King Kelly A, Ahmed Zubair M, Riazuddin Saima, Ahmad Nazir, Hussain Zawar, Qasim Muhammad, Kahn Shaheen N, Meltzer Meira R, Liu Xue Z, Munisamy Murali, Ghosh Manju, Rehm Heidi L, Tsilou Ekaterini T, Griffith Andrew J, Zein Wadih M, Brewer Carmen C, Riazuddin Sheikh, Friedman Thomas B
Abstract excerpt
BACKGROUND: Recessive mutant alleles of MYO7A, USH1C, CDH23, and PCDH15 cause non-syndromic deafness or type 1 Usher syndrome (USH1) characterised by deafness, vestibular areflexia, and vision loss due to retinitis pigmentosa. For CDH23, encoding cadherin 23, non-syndromic DFNB12 deafness is associated primarily with missense mutations hypothesised to have residual function. In contrast, homozygous nonsense,...
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