Monogenic hearing loss

Gene: STX4

I don't know

Comment on list classification: This gene should be rated AMBER as it has been implicated in congenital hearing impairment, as identified from one family and supported by functional studies.

Created: 23 Mar 2023, 5:33 p.m. | Last Modified: 23 Mar 2023, 5:33 p.m.

Panel Version: 4.5

Comment on list classification: This gene should be rated AMBER as it has been implicated in congenital hearing impairment, as identified from one family and supported by functional studies.

Created: 23 Mar 2023, 5:33 p.m. | Last Modified: 23 Mar 2023, 5:33 p.m.

Panel Version: 4.5

Comment on list classification: This gene should be rated AMBER as it has been implicated in congenital hearing impairment, as identified from one family and supported by functional studies.

Created: 23 Mar 2023, 5:32 p.m. | Last Modified: 23 Mar 2023, 5:32 p.m.

Panel Version: 4.5

PMID:36355422 reported a large consanguineous Pakistani family with eight affected individuals showing bilateral severe-to-profound hearing impairment. A homozygous splice region variant was identified in STX4 (c.232 + 6T>C), which causes exon skipping and a frameshift, that segregated with hearing impairment in this family.

In silico analysis showed that murine Stx4a is highly and widespread expressed in the developing and adult inner ear. Knockdown of stx4 in zebrafish showed an abnormal startle response, morphological and developmental defects, and a disrupted mechanotransduction function in neuromast hair cells.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature

Created: 23 Mar 2023, 5:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hearing impairment, HP:0000365

Publications

• 36355422