Cerebral vascular malformations

Gene: DIAPH1

I don't know

Kundishora et al (PMID: 34125151) reports seven DIAPH1 variants in six patients from two cohorts containing a total of 108 patients with features of Moyamoya disease (MMD). The authors suggest that DIAPH1 variants may be associated with MMD risk gene and impaired vascular cell actin remodeling in MMD pathogenesis. In PMID: 37400591 the authors report that MMD patients with DIAPH1 variants were more likely to have posterior circulation involvement (7/9, 78%) than those without DIAPH1 variants (5/41, 12%). No variant functional studies were presented in these studies.

Created: 8 Apr 2025, 4:49 p.m. | Last Modified: 8 Apr 2025, 4:49 p.m.

Panel Version: 3.25

I don't know

34125151: Authors suggest MMD risk gene, haploinsufficiency mechanism. Discovery cohort of patients with sporadic, bilateral MMD associated with transfusion dependent thrombocytopenia, found 3/24 variants (2 de novo, 1 transmitted); 4/84 further MMD validation cohort (2 unphased, 1 transmitted). In silico predictions only, no phenotyping of parents. No probands had deafness – AD truncating DIAPH1 associated with deafness 1 with or without thrombocytopenia OMIM: 124900 and AR truncating variants are associated with seizures, cortical blindness, microcephaly syndrome OMIM: 616632.
37400591: 2/50 missense variants (7 synonymous) in an Asian MMD population, authors suggest an association between DIAPH1 mutation and PCA involvement in MMD.
37012328: 3 patients with MMA, DIAPH1 variants identified through WES filtering, no evidence of pathogenicity provided.
Sources: Literature

Created: 4 Apr 2025, 3:48 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Moyamoya disease

Publications

• 34125151
• 37400591
• 37012328

Mode of pathogenicity
Other