title: A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.
abstract: Hereditary deafness is a genetically heterogeneous phenotype for which more than 100 genomic loci have been identified thus far. By analysis of a consanguineous Palestinian family, GPSM2 was recently discovered to be the cause of autosomal recessive non-syndromic hearing loss DFNB82. Here, we report a second truncating mutation, GPSM2 p.Q562X, identified via autozygosity mapping in a consanguineous Turkish family. This report provides evidence for allelic heterogeneity of GPSM2 and confirms its causative role for non-syndromic deafness.
authors.affiliation: Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.
authors.forename: K O
authors.initials: KO
authors.lastname: Yariz
authors.forename: T
authors.initials: T
authors.lastname: Walsh
authors.forename: H
authors.initials: H
authors.lastname: Akay
authors.forename: D
authors.initials: D
authors.lastname: Duman
authors.forename: A C
authors.initials: AC
authors.lastname: Akkaynak
authors.forename: M-C
authors.initials: MC
authors.lastname: King
authors.forename: M
authors.initials: M
authors.lastname: Tekin
mesh_terms: D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D005838:Genotype; D034381:Hearing Loss / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D014421:Turkey
chemical_list: C102754:GPSM2 protein, human; D047908:Intracellular Signaling Peptides and Proteins