Monogenic hearing loss

Gene: TIMM8A

PMID: 32820032 (2020) - Animal mouse model with a hemizygous variant (p.I23fs49X) in the Timm8a1 gene, recapitulated features of deafness-dystonia-optic neuronopathy (DDON) syndrome. Mutant male mice exhibited hearing impairment, cognitive decline, and some age-dependant alteration in motor coordination and balance. Abnormal mitochondrial morphology was detected in several brain regions of mutant mice using electron microscopy.

Created: 2 Sep 2020, 2:06 p.m. | Last Modified: 2 Sep 2020, 2:06 p.m.

Panel Version: 2.45

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

• 32820032

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
#304700:Mohr-Tranebjaerg syndrome[Sensorineural deafness, postlingual, progressive; PhotophobiaCortical blindnessMyopiaDecreased visual acuityConstricted visual fieldsAbnormal electroretinogram; Fractures; DystoniaSpasticityAbnormal posturingDysphagiaDysarthriaTremorHyperreflexiaMental deterioration; Behavioral/psychiatric abnormalities]; #311150:Jensen syndrome[Optic atrophy; Blindness; Infantile sensorineural hearing loss; Dementia; Moderate diffuse skeletal muscle wasting; Extensive CNS calcification in all structures, including meninges, vessels, and neurons at autopsy]; #:Deafness, X-linked 1, progressive

Publications

• PMID:10051608
• 10878669
• 11405816
• 11601506
• 11875042
• 11956200
• 15037720
• 15254020
• 15710860
• 16411215
• 8380905
• 8841189

Comment on list classification: Good evidence from expert reviewer and OMIM

Created: 31 Jan 2016, 8 p.m.

Green List (high evidence)

Good evidence for causing Mohr-Tranebjaerg syndrome and the diagnosis could be missed so put on green list. Neurodegenerative

Created: 19 Oct 2015, 6:14 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Variants in this GENE are reported as part of current diagnostic practice