a cdh3 mutation is segregated in an iranian family with congenital hypotrichosis and juvenile macular dystrophy

Backgrounds hypotrichosis with juvenile macular dystrophy (hjmd) is a rare genetic disorder caused from mutations in the cadherin 3 (cdh3) gene. results in the present study, we reported an iranian family with three affected members born to a consanguineous parent. mutational analysis using whole exome sequencing has revealed a nucleotide change in cdh3 gene (nm_001793:exon8:c.830delg) which leads to a frame-shift mutation (p.g277afs*20). no intra-familial phenotypic variation was found. conclusion identification of disease-causing mutation in this family facilitated the effective genetic counseling and prenatal diagnosis.