A CDH3 Mutation is Segregated in an Iranian Family with Congenital Hypotrichosis and Juvenile Macular Dystrophy
نویسندگان
1 Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran
2 Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran
3 Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
4 Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
5 Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
doi
10.22038/ijp.2017.27276.2350چکیده
BackgroundsHypotrichosis with juvenile macular dystrophy (HJMD) is a rare genetic disorder caused from mutations in the Cadherin 3 (CDH3) gene. ResultsIn 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. ConclusionIdentification of disease-causing mutation in this family facilitated the effective genetic counseling and prenatal diagnosis.
