國家衛生研究院 NHRI:Item 3990099045/8277

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Title:	Detection of common mutations in sporadic primary localized cutaneous amyloidosis by DNA mass spectrometry
Authors:	Chang, Y;Lin, C;Lee, C;Lin, M;Liu, L;Chen, C;Lee, D;Liu, H;Tsai, S;Matsuura, I
Contributors:	Institute of Molecular and Genomic Medicine
Abstract:	Primary localized cutaneous amyloidosis (PLCA) is a relatively common itchy skin disorder in South America and Southeast Asia. The disease is characterized istologically by focal deposition of amyloid in the dermal papillae of lesional skin resulting in severe itching and discolored macules or papules. The precise pathogenesis of PLCA is unclear, but it is considered to be multifactorial, involving both genetic and environmental contributions. The mutations of the genes for the components of the interleukin-31 (IL-31) receptor, OSMRβ and IL31RA, were associated with patients of familial PLCA from previous whole-genome scan and candidate gene studies. To examine if the same mutations could also be found in sporadic cases of PLCA, we aimed to develop a mutation screen panel covering all known OSMRβ and IL31RA mutations in patients with PLCA. Archival skin biopsy specimens from 360 sporadic PLCA patients were recruited for the analysis. DNA extracted from formalin-fixed paraffin-embedded skin samples were analyzed by a new single base extension reaction with matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) technology. Among the 360 sporadic PLCA cases, 5 were identified with p.K697T mutation, 4 with p.P694L mutation, one with p.I691T mutation, and one with p.V631L mutation of the OSMR gene. Furthermore, one case was found to be positive with the IL31RA-S521F mutation. Together, 3.3% (12/360) of the PLCA was confirmed positive with a definitive genetic diagnosis. The average age at onset was earlier in PLCA patients carrying OSMR or IL31RA mutations than that in patients without a definitive genetic diagnosis (31.3 vs. 46.5 years). Our results confirmed the genetic factor in PLCA patients and identified the prevalent mutations from a retrospective study. This finding may have important implications in clinical practice as a molecular diagnostic tool of the disease.
Date:	2014-09
Relation:	Journal of Investigative Dermatology. 2014 Sep;134(S2):S56.
Link to:	http://dx.doi.org/10.1038/jid.2014.343
JIF/Ranking 2023:	http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=0022-202X&DestApp=IC2JCR
Cited Times(WOS):	https://www.webofscience.com/wos/woscc/full-record/WOS:000340352100321
Appears in Collections:	[Isao Matsuura] Conference Papers/Meeting Abstract [Shih-Feng Tsai] Conference Papers/Meeting Abstract

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