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DTHD1
DTHD1
Death domain-containing protein 1; exact role in vision is unknown. Identified by Abu-Safieh et al. (2013) through autozygome analysis and exome sequencing in a consanguineous family with LCA and mild muscular dystrophy.
No Targeted Treatment Yet
Chromosomal Locus
4p14
Inheritance
Autosomal Recessive
Frequency
<1% of LCA cases
Key Clinical Features
- 1No official LCA subtype number assigned
- 2Protein function in retina not yet characterized
- 3Identified in a single family with LCA and mild muscular dystrophy
- 4c.2T-C mutation causes >4-fold reduction in protein abundance
Syndromic Associations
Patients with DTHD1 mutations should be monitored for potential involvement of other organs:
- Mild to moderate muscular dystrophy (in the original family)