International journal of dermatology · 2017
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.
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Shah Khadim, Mehmood Sabba, Jan Abid, Abbe Izoduwa, Hussain Ali Raja, Khan Anwar, Chishti Muhammad S, Lee Kwanghyuk, Ahmad Farooq, Ansar Muhammad, University of Washington Center for Mendelian Genomics, Shahzad Shaheen, Nickerson Deborah A, Bamshad Michael J, Coucke Paul J, Santos-Cortez Regie L P, Spritz Richard A, Leal Suzanne M, Ahmad Wasim
Аннотация
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.
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.
Предметные рубрики MeSH
1-Acylglycerol-3-Phosphate O-AcyltransferaseAldehyde OxidoreductasesBlisterCollagen Type VIIConsanguinityDNA Mutational AnalysisDNA-Binding ProteinsEndonucleasesEpidermolysis BullosaEpidermolysis Bullosa DystrophicaEpidermolysis Bullosa SimplexExomeFemaleFilaggrin ProteinsFlavoproteinsHomozygoteHumansINDEL MutationIchthyosiform Erythroderma, CongenitalIchthyosis VulgarisIchthyosis, LamellarIntermediate Filament ProteinsKeratin-14Lipid Metabolism, Inborn ErrorsLipoxygenaseMaleMembrane ProteinsMitochondrial ProteinsMuscular DiseasesNeoplasm ProteinsNuclear ProteinsPedigreePeriodontal DiseasesPhenotypePhotosensitivity DisordersPorphyria, VariegateProtoporphyrinogen OxidaseRare DiseasesSjogren-Larsson SyndromeSkin Diseases, GeneticTranscription FactorsXeroderma PigmentosumDNA Excision Repair Protein ERCC-5