Monogenic hearing loss

Gene: SYNE4

Comment on list classification: Changing rating from red to green as there are 3 unrelated cases

Created: 17 Feb 2019, 10:23 p.m.

Associated with Deafness, autosomal recessive 76 (615540) in OMIM.

PMID: 23348741 - Horn et al (2013) - 6 patients from 2 unrelated consanguineous Iraqi Jewish families with autosomal recessive deafness-76 - homozygous truncating mutation in the SYNE4 gene (c.228_229delAT).

PMID: 28958982 - Masterton et al (2018) - 2 members of a family (consanguineousTurkish parents) with non-syndromic high frequency sensorineural hearing loss who are homozygous for a pathogenic SYNE4 variant NM-001039876.1:c.129-1G>T. Both parents were heterozygous for the variant.

3rd case reported by GOSH.

Created: 17 Feb 2019, 10:21 p.m.

Green List (high evidence)

(Homozygous frameshift, 1 family, both parents confirmed carriers in our lab): Horn et al (2013) PMID 23348741 two families of Iraqi Jewish origin with same 2bp deletion. Masterton et al (2018) PMID 28958982 two siblings in one family homozygous -1G>T.

Created: 17 Feb 2019, 5:50 p.m.

Publications

• 23348741
• 28958982

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#615540:Deafness, autosomal recessive 76[Hearing loss, progressive sensorineural, affecting high frequencies]

Publications

• PMID:19164528
• 23348741