Author/Authors :
Ghafouri-Fard, Soudeh Department of Medical Genetics - Shahid Beheshti University of Medical Sciences, Tehran, Iran , Fardaei, Majid Department of Medical Genetics - Shiraz University of Medical Sciences, Shiraz, Iran , Tabei, Mohammad Bagher Department of Medical Genetics - Shiraz University of Medical Sciences, Shiraz, Iran , Dianatpour, Mehdi Department of Medical Genetics - Shiraz University of Medical Sciences, Shiraz, Iran , Miryounesi, Mohammad Genomic Research Center - Shahid Beheshti University of Medical Sciences, Tehran, Iran
Abstract :
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.
