A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families

J Eur Acad Dermatol Venereol. 2016 Dec;30(12):e210-e213. doi: 10.1111/jdv.13540. Epub 2015 Dec 21.

Authors

F Ahmad¹, M Ansar¹, S Mehmood¹, A Izoduwa², K Lee², A Nasir¹, M Abrar¹, S Mehmood¹, A Ullah¹, A Aziz¹; University of Washington Center for Mendelian Genomics³; J D Smith², J Shendure², M J Bamshad², D A Nicekrson², R L P Santos-Cortez², S M Leal², W Ahmad^{1

4}

Affiliations

¹ Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.
² Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA.
³ Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
⁴ Pakistan Academy of Sciences (PAS), Islamabad, Pakistan.

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Amino Acid Sequence
Consanguinity*
Female
Genes, Recessive
Humans
Ichthyosiform Erythroderma, Congenital / genetics*
Lipase / chemistry
Lipase / genetics*
Male
Mutation, Missense*
Pakistan
Pedigree
Sequence Homology, Amino Acid

Substances

Lipase
PNPLA1 protein, human

Grants and funding

UM1 HG006493/HG/NHGRI NIH HHS/United States