A CDH3 Mutation is Segregated in an Iranian Family with Congenital Hypotrichosis and Juvenile Macular Dystrophy
Publish place: International Journal of Pediatrics، Vol: 6، Issue: 1
Publish Year: 1397
نوع سند: مقاله ژورنالی
زبان: English
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شناسه ملی سند علمی:
JR_INJPM-6-1_024
تاریخ نمایه سازی: 18 تیر 1398
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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Authors
Soudeh Ghafouri-Fard
Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Majid Fardaei
Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
Seyed Mohammad Bagher Tabei
Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
Mehdi Dianatpour
Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.