Molecular Basis of Hypotrichosis with Juvenile Macular Dystrophy in Two Siblings
August 2005
in “
British journal of dermatology/British journal of dermatology, Supplement
”
Studysummary This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms. Our plain-language summary of this paper — not a Tressless recommendation.
The study investigated the molecular basis of hypotrichosis in two Arab Muslim siblings with sparse and short hair but no visual symptoms. Mutation analysis revealed a novel nonsense mutation (Y615X) in the CDH3 gene, which is known to cause hypotrichosis with juvenile macular dystrophy (HJMD). Despite normal visual acuity, significant macular degenerative changes were observed. The findings suggested that patients with congenital hypotrichosis should have thorough fundus examinations to detect pigmentary macular changes indicative of a CDH3 mutation.
