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

Authors

  • Majid Fardaei Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Mehdi Dianatpour Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Mohammad Miryounesi Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  • Soudeh Ghafouri-Fard Department of Medical Genetics, 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.

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Journal title

volume 6  issue 1

pages  6999- 7002

publication date 2018-01-01

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