Ontology highlight
ABSTRACT:
SUBMITTER: Tekin M
PROVIDER: S-EPMC3635725 | biostudies-literature | 2013 May
REPOSITORIES: biostudies-literature
Tekin Mustafa M Chioza Barry A BA Matsumoto Yoshifumi Y Diaz-Horta Oscar O Cross Harold E HE Duman Duygu D Kokotas Haris H Moore-Barton Heather L HL Sakoori Kazuto K Ota Maya M Odaka Yuri S YS Foster Joseph J Cengiz F Basak FB Tokgoz-Yilmaz Suna S Tekeli Oya O Grigoriadou Maria M Petersen Michael B MB Sreekantan-Nair Ajith A Gurtz Kay K Xia Xia-Juan XJ Pandya Arti A Patton Michael A MA Young Juan I JI Aruga Jun J Crosby Andrew H AH
The Journal of clinical investigation 20130401 5
Myopia is by far the most common human eye disorder that is known to have a clear, albeit poorly defined, heritable component. In this study, we describe an autosomal-recessive syndrome characterized by high myopia and sensorineural deafness. Our molecular investigation in 3 families led to the identification of 3 homozygous nonsense mutations (p.R181X, p.S297X, and p.Q414X) in SLIT and NTRK-like family, member 6 (SLITRK6), a leucine-rich repeat domain transmembrane protein. All 3 mutant SLITRK6 ...[more]