Document Type : case report

Authors

• Soudeh Ghafouri-Fard ¹
• Majid Fardaei ²
• Seyed Mohammad Bagher Tabei ²
• Mehdi Dianatpour ²
• Mohammad Miryounesi ³

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 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.

Keywords

• Cadherin-3
• Gene
• Mutation