Whole exome sequencing in a multi-generation family from India reveals a genetic variation c.10C>T (p.Gln4Ter) in keratin 5 gene associated with Dowling-Degos disease

Indian J Dermatol Venereol Leprol. 2018 May-Jun;84(3):344-346. doi: 10.4103/ijdvl.IJDVL_268_17.

Authors

Neha Virmani¹, Shamsudheen Karuthedath Vellarikkal², Ankit Verma², Rijith Jayarajan², Jagdish Sakhiya¹, Chirag Desai³, Sridhar Sivasubbu¹, Vinod Scaria¹

Affiliations

¹ Department of Dermatology, Sakhiya Skin Clinic, Surat, Gujarat, India.
² Genomics and Molecular Medicine, CSIR Institute of Genomics and Integrative Biology, New Delhi, India.
³ Department of Dermatology, Seth GSMC and KEM Hospital, Mumbai, Maharashtra, India.

PMID: 29600799
DOI: 10.4103/ijdvl.IJDVL_268_17

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Exome Sequencing* / methods
Family*
Female
Genetic Association Studies / methods
Genetic Variation / genetics*
Humans
Hyperpigmentation / diagnosis
Hyperpigmentation / genetics*
India
Keratin-5 / genetics*
Male
Pedigree
Skin Diseases, Genetic / diagnosis
Skin Diseases, Genetic / genetics*
Skin Diseases, Papulosquamous / diagnosis
Skin Diseases, Papulosquamous / genetics*

Substances

Keratin-5

Supplementary concepts

Dowling-Degos Disease