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Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome

American journal of human genetics, 2012-03, Vol.90 (3), p.558-564 [Peer Reviewed Journal]

2012 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright Â© 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Mar 9, 2012 ;2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2012 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2012.02.006 ;PMID: 22405088 ;CODEN: AJHGAG

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Title:
Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome
Author: Lin, Zhimiao ; Chen, Quan ; Lee, Mingyang ; Cao, Xu ; Zhang, Jie ; Ma, Donglai ; Chen, Long ; Hu, Xiaoping ; Wang, Huijun ; Wang, Xiaowen ; Zhang, Peng ; Liu, Xuanzhu ; Guan, Liping ; Tang, Yiquan ; Yang, Haizhen ; Tu, Ping ; Bu, Dingfang ; Zhu, Xuejun ; Wang, KeWei ; Li, Ruoyu ; Yang, Yong
Subjects: Adolescent ; Adult ; Alopecia ; Alopecia - genetics ; Amino Acid Sequence ; Apoptosis ; Apoptosis - genetics ; Biological and medical sciences ; Brain ; cation channels ; Cell Line, Transformed ; Child ; Congenital diseases ; Exome ; Female ; Follicles ; Fundamental and applied biological sciences. Psychology ; Gene expression ; General aspects. Genetic counseling ; Genetics ; Genetics of eukaryotes. Biological and molecular evolution ; Hair ; HEK293 Cells ; Humans ; Keratinization ; Keratinocytes ; Keratoderma, Palmoplantar - genetics ; Male ; Medical genetics ; Medical sciences ; Missense mutation ; Molecular and cellular biology ; Molecular Sequence Data ; Mutation ; Mutation, Missense ; Nucleotide sequence ; Nucleotides ; Proteins ; Pruritus - genetics ; Skin ; Spinal cord ; Syndrome ; Transfection - methods ; transient receptor potential proteins ; TRPV Cation Channels - genetics ; Young Adult
Is Part Of: American journal of human genetics, 2012-03, Vol.90 (3), p.558-564
Description: Olmsted syndrome (OS) is a rare congenital disorder characterized by palmoplantar and periorificial keratoderma, alopecia in most cases, and severe itching. The genetic basis for OS remained unidentified. Using whole-exome sequencing of case-parents trios, we have identified a de novo missense mutation in TRPV3 that produces p.Gly573Ser in an individual with OS. Nucleotide sequencing of five additional affected individuals also revealed missense mutations in TRPV3 (which produced p.Gly573Ser in three cases and p.Gly573Cys and p.Trp692Gly in one case each). Encoding a transient receptor potential vanilloid-3 cation channel, TRPV3 is primarily expressed in the skin, hair follicles, brain, and spinal cord. In transfected HEK293 cells expressing TRPV3 mutants, much larger inward currents were recorded, probably because of the constitutive opening of the mutants. These gain-of-function mutations might lead to elevated apoptosis of keratinocytes and consequent skin hyperkeratosis in the affected individuals. Our findings suggest that TRPV3 plays essential roles in skin keratinization, hair growth, and possibly itching sensation in humans and selectively targeting TRPV3 could provide therapeutic potential for keratinization or itching-related skin disorders.
Publisher: Cambridge, MA: Elsevier Inc
Language: English
Identifier: ISSN: 0002-9297
EISSN: 1537-6605
DOI: 10.1016/j.ajhg.2012.02.006
PMID: 22405088
CODEN: AJHGAG
Source: Geneva Foundation Free Medical Journals
Cell Press Free Archives
Open Access: PubMed Central
MEDLINE

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Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome

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