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- Title
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.
- Authors
Shah, Khadim; Mehmood, Sabba; Jan, Abid; Abbe, Izoduwa; Hussain Ali, Raja; Khan, Anwar; Chishti, Muhammad S.; Lee, Kwanghyuk; Ahmad, Farooq; Ansar, Muhammad; Shahzad, Shaheen; Nickerson, Deborah A.; Bamshad, Michael J.; Coucke, Paul J.; Santos‐Cortez, Regie L. P.; Spritz, Richard A.; Leal, Suzanne M.; Ahmad, Wasim
- Abstract
Background Genodermatoses represent genetic anomalies of skin tissues including hair follicles, sebaceous glands, eccrine glands, nails, and teeth. Ten consanguineous families segregating various genodermatosis phenotypes were investigated in the present study. Methods Homozygosity mapping, exome, and Sanger sequencing were employed to search for the disease-causing variants in the 10 families. Results Exome sequencing identified seven homozygous sequence variants in different families, including: c.27delT in FERMT1; c.836delA in ABHD5; c.2453C>T in ERCC5; c.5314C>T in COL7A1; c.1630C>T in ALOXE3; c.502C>T in PPOX; and c.10G>T in ALDH3A2. Sanger sequencing revealed three homozygous variants: c.1718 + 2A>G in FERMT1; c.10459A>T in FLG; and c.92delT in the KRT14 genes as the underlying genetic cause of skin phenotypes. Conclusion This study supports the use of exome sequencing as a powerful, efficient tool for identifying genes that underlie rare monogenic skin disorders.
- Subjects
SKIN diseases; SKIN disease genetics; HOMOZYGOSITY; EXOMES; HAIR follicles
- Publication
International Journal of Dermatology, 2017, Vol 56, Issue 12, p1406
- ISSN
0011-9059
- Publication type
Article
- DOI
10.1111/ijd.13778