Monogenic hearing loss

Gene: WFS1

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Green List (high evidence)

New review confirms gene status and mode of inheritance; no changes required.

Created: 1 Jun 2018, 2:31 p.m.

Comment on mode of inheritance: Changed from monoallelic to both, as Wolfram syndrome is autosomal recessive, and Wolfram-like syndrome is autosomal dominant, and also associated with deafness, autosomal dominant 6/14/38.

Created: 23 Feb 2016, 10:08 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#116400:?Cataract 41[Cataract, congenital nuclear]; #125853:{Diabetes mellitus, noninsulin-dependent, association with}[Noninsulin-dependent diabetes mellitus; Late onset; Insulin resistance; Decreased glucose disposal]; #222300:Wolfram syndrome[Growth retardation; Hearing loss, sensorineural; Optic atrophyPigmentary retinopathyPtosisNystagmus; Cardiomyopathy; Testicular atrophy; Hydronephrosis; Hydroureter; Neurogenic bladder; Limited mobility of proximal interphalangeal joint; Mental retardation (in some patients)SeizuresAtaxiaTremorDysphagiaDysarthriaStroke-like episodesPsychiatric disordersBrain atrophy; Diabetes mellitusDiabetes insipidusHypothyroidism; Caused by mutation in the wolframin gene (WFS1,)]; #600965:Deafness, autosomal dominant 6/14/38[Progressive, low frequency sensorineural hearing loss; Caused by mutation in the WFS1 gene ()]; #614296:Wolfram-like syndrome, autosomal dominant[Hearing loss, sensorineural, congenital progressive (affects primarily low- and middle-frequency ranges); Optic atrophyGlaucoma (in some patients); Depression (in some patients)Anxiety (in some patients)Hallucinations (rare)Psychosis (rare)Schizophrenia (rare)Autism (rare); Diabetes mellitus (in some patients)Impaired glucose tolerance (in some patients); Caused by mutation in the wolframin gene (WFS1,)]

Publications

• PMID:10521293
• 11161832
• 11181571
• 11260218
• 11295831
• 11317350
• 11709537
• 11709538
• 12073007
• 12107816
• 12181639
• 12754709
• 12913071
• 12955714
• 14527944
• 15056606
• 15151504
• 16151413
• 16195229
• 16648378
• 16806192
• 17492394
• 17603484
• 17947299
• 18544103
• 18688868
• 18806274
• 20069065
• 21538838
• 23531866
• 8595423
• 9771706
• 9817917

Comment when marking as ready: Expert review and OMIM confirmed

Created: 29 Jan 2016, 5:31 p.m.