First Report of a Known Pathogenic Variant in the FZD6 Gene, in an Iranian Family with Recessive Nail Dysplasia: A Case Re-port

  • Mirsajjad MOUSAVI-ASL GERMEH CHESHMEH Student Research Committee, Ardabil University of Medical Sciences, Ardabil, Iran
  • Ali NAJIZADEH Student Research Committee, Alborz University of Medical Sciences, Karaj, Iran
  • Saied HOSSEINI-ASL Homa Gene Clinic, Department of Genetics, School of Medicine, Ardabil University of Medical Sciences, Ardabil, Iran
  • Hooshang ZAIMKOHAN 1. Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran 2. Department of Biochemistry, Genetics and Nutrition, Faculty of Medicine, Alborz University of Medical Sciences, Karaj, Iran
Keywords: Nail dysplasia; FZD6 gene; Autosomal recessive; Iran

Abstract

Abstract Congenital Nail abnormalities are rare ectodermal defects. Autosomal recessive nail dysplasia is much rarer. Recently it has been recognized as a condition resulting in nail dystrophy in the absence of other cutaneous or extracutaneous disorders. Few case reports have identified mutations in the Frizzled 6 (FZD6) gene in families presenting with abnormal nails consistent with Non-Syndromic Congenital Nail Dysplasia. We report a family presenting, they lived in Namin a country of the Ardabil Province, northwestern Iran in 2016, for the first time in Iran in whom we identified mutations in FZD6 with abnormal nails formation.    

References

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Published
2019-07-01
How to Cite
1.
MOUSAVI-ASL GERMEH CHESHMEH M, NAJIZADEH A, HOSSEINI-ASL S, ZAIMKOHAN H. First Report of a Known Pathogenic Variant in the FZD6 Gene, in an Iranian Family with Recessive Nail Dysplasia: A Case Re-port. Iran J Public Health. 48(7):1369-1374.
Section
Case Report(s)