SLITRK6 mutations cause myopia and deafness in humans and mice.

doi:10.1172/JCI65853

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Article

SLITRK6 mutations cause myopia and deafness in humans and mice.

The Journal of clinical investigation - 1 May 2013

Tekin Mustafa, Chioza Barry A, Matsumoto Yoshifumi, Diaz-Horta Oscar, Cross Harold E, Duman Duygu, Kokotas Haris, Moore-Barton Heather L, Sakoori Kazuto, Ota Maya, Odaka Yuri S, Foster Joseph, Cengiz F Basak, Tokgoz-Yilmaz Suna, Tekeli Oya, Grigoriadou Maria, Petersen Michael B, Sreekantan-Nair Ajith, Gurtz Kay, Xia Xia-Juan, Pandya Arti, Patton Michael A, Young Juan I, Aruga Jun, Crosby Andrew H

Abstract excerpt

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...

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Identifiers

PMID: 23543054
DOI: 10.1172/JCI65853
PMCID: PMC3635725

Genes

SLITRK6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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