WDR34
The WDR34 Gene: Unraveling Its Role in Health and Disease
Description
The WDR34 gene, located on chromosome 4q31.3, encodes a protein known as WD repeat domain 34 or WD repeat containing protein 34. It belongs to the WD40 family of proteins, which are characterized by a conserved WD40 repeat domain. This domain consists of four to seven tandemly arranged tryptophan-aspartic acid (WD) repeats, which play a crucial role in protein-protein interactions.
Associated Diseases
Mutations in the WDR34 gene have been linked to several diseases and disorders, including:
- Miller-Dieker syndrome: A rare genetic disorder characterized by severe intellectual disability, microcephaly (abnormally small head), and facial dysmorphism. Mutations in WDR34 account for approximately 60% of Miller-Dieker syndrome cases.
- Lissencephaly-microcephaly spectrum disorders: A group of brain malformations characterized by a smooth brain surface (lissencephaly) and microcephaly. Some individuals with these disorders have mutations in WDR34.
- Spinal muscular atrophy with respiratory distress type 1 (SMARD1): A severe neuromuscular disorder that affects infants and leads to progressive muscle weakness and respiratory failure. Mutations in WDR34 have been identified in a subset of SMARD1 cases.
- Congenital heart defects: Certain mutations in WDR34 have been associated with an increased risk of congenital heart defects, such as atrial septal defect (ASD) and ventricular septal defect (VSD).
Did you Know ?
Approximately 1 in 100,000 individuals worldwide is affected by Miller-Dieker syndrome, making it a rare but significant genetic disorder.
