Monogenic hearing loss

Gene: KCNJ10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#600791:Enlarged vestibular aqueduct, digenic[Hearing loss, sensorineuralVestibular abnormalities (variable)Enlarged vestibular aqueductCochlear malformation defect (Mondini dysplasia) (less common)]; #612780:SESAME syndrome[Short stature (in some patients); Hearing loss, sensorineural; No hypertension; Salt cravingPolydipsia; Renal potassium wastingRenal sodium wasting; EnuresisPolyuria; SeizuresPsychomotor delayMental retardationAtaxiaSome patients do not achieve ability to walkPoor speech developmentHypotoniaIntention tremorDysdiadochokinesisCerebellar atrophy; Axonal neuropathy (rare)Hypomyelination of sural nerve (rare); Metabolic alkalosis; HypokalemiaHypomagnesemiaHypocalciuriaIncreased plasma reninIncreased plasma aldosterone]

Publications

• PMID:10856114
• 11466414
• 12618319
• 17942730
• 19289823
• 19420365
• 19426954
• 20651251
• 20807765
• 21849804
• 22328087
• 7580148
• 7608203
• 9367690

Comment when marking as ready: Expert review and OMIM confirmed

Created: 29 Jan 2016, 3:41 p.m.

Comment on mode of inheritance: Expert review and OMIM agree no dominant form

Created: 29 Jan 2016, 3:40 p.m.

Green List (high evidence)

Causes EAST syndrome/SESAME; very little good evidence for non-syndromic enlarged vestibular aqueduct/Pendred/ nonsyndromic hearing loss.

Disagree with comment above; does not cause dominant non-syndromic hearing loss

Created: 13 Oct 2015, 7:07 p.m.

For Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome, the Illumina source of information reports a recessive mode of inheritance for this gene. For Nonsyndromic Hearing Loss, Mixed, a dominant mode of inheritance is reported.

Created: 2 Jul 2015, 7:30 a.m.