Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis

M. Li; Z. Li; J. Wang; C. Ni; Z. Sun; N. J. Wilson; J. Zhang; F. Chen; X. Li; X. Du; H. Yu; L. Zhang; F. J. D. Smith; G. Zhang; Z. Yao

doi:10.1111/jdv.13653

Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis

M. Li (Lead / Corresponding author), Z. Li, J. Wang, C. Ni, Z. Sun, N. J. Wilson, J. Zhang, F. Chen, X. Li, X. Du, H. Yu, L. Zhang, F. J. D. Smith, G. Zhang (Lead / Corresponding author), Z. Yao

Biological Chemistry and Drug Discovery

Research output: Contribution to journal › Article › peer-review

24 Citations (Scopus)

Abstract

BACKGROUND: Porokeratosis (PK, MIM 175800) is a chronic autosomal dominant cutaneous keratinization disorder, which has a wide variety of clinical manifestations.

OBJECTIVES: We analysed the molecular basis of 10 families and 12 sporadic cases with different subtypes of porokeratosis in the Chinese population.

METHODS: Genomic DNA was extracted from peripheral blood samples. Mutation screening was performed by direct sequencing of exons and flanking intron-exon boundaries for the entire coding region of four mevalonate pathway genes and SLC17A9 gene.

RESULTS: We detected three novel mutations and seven previously described mutations by direct sequence analysis of the PCR products. Mutations p.Phe249Ser and p.Asn292Ser in mevalonate decarboxylase (MVD) were the most common mutations in this PK cohort; their presence was 27.3% and 13.6% respectively.

CONCLUSIONS: This study extended the mutation spectrum of PK in the Chinese Han population and provided further evidence for the genetic basis of PK. We first identified MVD simultaneously responsible for porokeratosis palmaris et plantaris disseminate development and confirmed the genotype-phenotype correlations.

Original language	English
Pages (from-to)	1512-1517
Number of pages	6
Journal	Journal of the European Academy of Dermatology and Venereology
Volume	30
Issue number	9
Early online date	16 Jul 2016
DOIs	https://doi.org/10.1111/jdv.13653
Publication status	Published - 19 Aug 2016

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title = "Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis",

abstract = "BACKGROUND: Porokeratosis (PK, MIM 175800) is a chronic autosomal dominant cutaneous keratinization disorder, which has a wide variety of clinical manifestations.OBJECTIVES: We analysed the molecular basis of 10 families and 12 sporadic cases with different subtypes of porokeratosis in the Chinese population.METHODS: Genomic DNA was extracted from peripheral blood samples. Mutation screening was performed by direct sequencing of exons and flanking intron-exon boundaries for the entire coding region of four mevalonate pathway genes and SLC17A9 gene.RESULTS: We detected three novel mutations and seven previously described mutations by direct sequence analysis of the PCR products. Mutations p.Phe249Ser and p.Asn292Ser in mevalonate decarboxylase (MVD) were the most common mutations in this PK cohort; their presence was 27.3% and 13.6% respectively.CONCLUSIONS: This study extended the mutation spectrum of PK in the Chinese Han population and provided further evidence for the genetic basis of PK. We first identified MVD simultaneously responsible for porokeratosis palmaris et plantaris disseminate development and confirmed the genotype-phenotype correlations.",

author = "M. Li and Z. Li and J. Wang and C. Ni and Z. Sun and Wilson, {N. J.} and J. Zhang and F. Chen and X. Li and X. Du and H. Yu and L. Zhang and Smith, {F. J. D.} and G. Zhang and Z. Yao",

note = "This work was supported by a grant from the National Nature Science Foundation of China (81472867) and a grant from the Research Fund for the Doctoral Program of Higher Education (20130073120014). The Centre for Dermatology and Genetic Medicine at the University of Dundee is supported by a Wellcome Trust Strategic Award (098439/Z/12/Z)",

year = "2016",

month = aug,

day = "19",

doi = "10.1111/jdv.13653",

language = "English",

volume = "30",

pages = "1512--1517",

journal = "Journal of the European Academy of Dermatology and Venereology",

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number = "9",

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TY - JOUR

T1 - Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis

AU - Li, M.

AU - Li, Z.

AU - Wang, J.

AU - Ni, C.

AU - Sun, Z.

AU - Wilson, N. J.

AU - Zhang, J.

AU - Chen, F.

AU - Li, X.

AU - Du, X.

AU - Yu, H.

AU - Zhang, L.

AU - Smith, F. J. D.

AU - Zhang, G.

AU - Yao, Z.

N1 - This work was supported by a grant from the National Nature Science Foundation of China (81472867) and a grant from the Research Fund for the Doctoral Program of Higher Education (20130073120014). The Centre for Dermatology and Genetic Medicine at the University of Dundee is supported by a Wellcome Trust Strategic Award (098439/Z/12/Z)

PY - 2016/8/19

Y1 - 2016/8/19

N2 - BACKGROUND: Porokeratosis (PK, MIM 175800) is a chronic autosomal dominant cutaneous keratinization disorder, which has a wide variety of clinical manifestations.OBJECTIVES: We analysed the molecular basis of 10 families and 12 sporadic cases with different subtypes of porokeratosis in the Chinese population.METHODS: Genomic DNA was extracted from peripheral blood samples. Mutation screening was performed by direct sequencing of exons and flanking intron-exon boundaries for the entire coding region of four mevalonate pathway genes and SLC17A9 gene.RESULTS: We detected three novel mutations and seven previously described mutations by direct sequence analysis of the PCR products. Mutations p.Phe249Ser and p.Asn292Ser in mevalonate decarboxylase (MVD) were the most common mutations in this PK cohort; their presence was 27.3% and 13.6% respectively.CONCLUSIONS: This study extended the mutation spectrum of PK in the Chinese Han population and provided further evidence for the genetic basis of PK. We first identified MVD simultaneously responsible for porokeratosis palmaris et plantaris disseminate development and confirmed the genotype-phenotype correlations.

AB - BACKGROUND: Porokeratosis (PK, MIM 175800) is a chronic autosomal dominant cutaneous keratinization disorder, which has a wide variety of clinical manifestations.OBJECTIVES: We analysed the molecular basis of 10 families and 12 sporadic cases with different subtypes of porokeratosis in the Chinese population.METHODS: Genomic DNA was extracted from peripheral blood samples. Mutation screening was performed by direct sequencing of exons and flanking intron-exon boundaries for the entire coding region of four mevalonate pathway genes and SLC17A9 gene.RESULTS: We detected three novel mutations and seven previously described mutations by direct sequence analysis of the PCR products. Mutations p.Phe249Ser and p.Asn292Ser in mevalonate decarboxylase (MVD) were the most common mutations in this PK cohort; their presence was 27.3% and 13.6% respectively.CONCLUSIONS: This study extended the mutation spectrum of PK in the Chinese Han population and provided further evidence for the genetic basis of PK. We first identified MVD simultaneously responsible for porokeratosis palmaris et plantaris disseminate development and confirmed the genotype-phenotype correlations.

U2 - 10.1111/jdv.13653

DO - 10.1111/jdv.13653

M3 - Article

C2 - 27422687

SN - 0926-9959

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JO - Journal of the European Academy of Dermatology and Venereology

JF - Journal of the European Academy of Dermatology and Venereology

IS - 9

ER -

Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis

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