Syndromic Retinopathy

Gene: TIMM8A

Green List (high evidence)

Progressive syndrome that includes deafness, visual disability leading to cortical blindness, dystonia, fractures, and intellectual impairment.

Created: 2 Sep 2020, 11:49 p.m. | Last Modified: 2 Sep 2020, 11:49 p.m.

Panel Version: 0.4139

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

Phenotypes
Mohr-Tranebjaerg syndrome, MIM# 304700

Publications

• 11803487
• 11405816

PMID: 32820032 (2020) - Animal mouse model with a hemizygous variant (p.I23fs49X) in the Timm8a1 gene, recapitulated features of the deafness-dystonia-optic neuronopathy (DDON) syndrome, associated with this gene. 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, 2:15 p.m. | Last Modified: 2 Sep 2020, 2:15 p.m.

Panel Version: 0.4134

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

Publications

• 32820032