Usher syndrome, type 1G

(redirected from USH1G)

Usher syndrome, type 1G

A heterogeneous condition (OMIM:606943) characterised by profound congenital sensorineural deafness, absent vestibular function, and prepubertal onset of progressive retinitis pigmentosa leading to blindness.

Molecular pathology
Defects of USH1G, which encodes a protein that plays a role in developing and maintaining the auditory and visual systems, cause Usher syndrome type 1G.
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References in periodicals archive ?
At present, ten genes have been associated with USH, including MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2, USH2A, ADGRV1, WHRN, and CLRN-1 [3-15].
Moreover, PDZD7 was also shown to interact with USH1 proteins MYO7A (USH1B), harmonin (USH1C), and SANS (USH1G) [18, 24, 25].