Format

Send to

Choose Destination
Int J Dermatol. 2017 Dec;56(12):1406-1413. doi: 10.1111/ijd.13778.

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

Author information

1
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
2
Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, CO, USA.
3
Department of Biotechnology & Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
4
Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
5
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
6
Department of Biochemistry, Hazara University, Mansehra, Pakistan.
7
Department of Biotechnology & Bioinformatics, International Islamic University, Islamabad, Pakistan.
8
Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
9
Department of Otolaryngology, University of Colorado School of Medicine, Aurora, CO, USA.
10
Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA.

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.

PMID:
29130490
PMCID:
PMC6094939
DOI:
10.1111/ijd.13778
[Indexed for MEDLINE]
Free PMC Article

MeSH terms, Substances, Supplementary concepts, Grant support

MeSH terms

Substances

Supplementary concepts

Grant support

Supplemental Content

Full text links

Icon for Wiley Icon for PubMed Central Icon for University of Colorado, Strauss Health Sciences Library
Loading ...
Support Center