Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare genetic disorder caused from mutations in the Cadherin 3 (CDH3) gene.
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.
Identification of disease-causing mutation in this family facilitated the effective genetic counseling and prenatal diagnosis.