Article
Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss.
Human genetics - 1 Apr 2015
Nayak Gowri, Varga Lukas, Trincot Claire, Shahzad Mohsin, Friedman Penelope L, Klimes Iwar, Greinwald John H, Riazuddin S Amer, Masindova Ivica, Profant Milan, Khan Shaheen N, Friedman Thomas B, Ahmed Zubair M, Gasperikova Daniela, Riazuddin Sheikh, Riazuddin Saima
Abstract excerpt
Pathogenic mutations of MARVELD2, encoding tricellulin, a tricelluar tight junction protein, cause autosomal recessive non-syndromic hearing loss (DFNB49) in families of Pakistan and Czech Roma origin. In fact, they are a significant cause of prelingual hearing loss in the Czech Roma, second only to GJB2 variants. Previously, we reported that mice homozygous for p.Arg497* variant of Marveld2 had a broad...
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