A CDH3 Mutation is Segregated in an Iranian Family with Congenital Hypotrichosis and Juvenile Macular Dystrophy

Abstract

<span style="font-family: Times New Roman;"><strong><em>Backgrounds</em></strong></span><br /> <span style="font-family: Times New Roman;">Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare genetic disorder caused from mutations in the <em>Cadherin 3 (CDH3)</em> gene. </span><br /> <span style="font-family: Times New Roman;"><strong><em>Results</em></strong></span><br /> <span style="font-family: Times New Roman;">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 <em>CDH3</em> gene (NM_001793:exon8:c.830delG) which leads to a frame-shift mutation (p.G277Afs*20). No intra-familial phenotypic variation was found. </span><br /> <span style="font-family: Times New Roman;"><strong><em>Conclusion</em></strong></span><br /> <span style="font-family: Times New Roman;">Identification of disease-causing mutation in this family facilitated the effective genetic counseling and prenatal diagnosis.</span>