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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.
Henüz Hedefli Tedavi Yok
Kromozomal Lokus
4p14
Kalıtım
Otozomal Resesif
Sıklık
<1% LCA vakalarının
Temel Klinik Özellikler
- 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
Sendromik İlişkiler
DTHD1 mutasyonlu hastalar diğer organların olası tutulumu açısından izlenmelidir:
- Mild to moderate muscular dystrophy (in the original family)