A novel NCSTN gene mutation in a Chinese family with acne inversa

Molecular Genetics and Genomics : MGG
Chao WuXue Zhang

Abstract

Acne inversa (AI) is a chronic inflammatory disease of hair follicles. The pathogenesis of AI remains unclear. Haploinsufficiency of genes encoding γ-secretase components is the genetic basis for a subset of familial AI. Idiopathic guttate hypomelanosis (IGH) is a leukoderma characterized by multiple porcelain-white macules. Familial AI associated with IGH has not been reported previously. Herein, we present the pathogenic variation in a Chinese Han family with AI and IGH. Peripheral blood samples were collected from 16 members of the entire family. Eighteen exons and flanking introns of the NCSTN gene were amplified by polymerase chain reaction. Two hundred unrelated healthy Chinese subjects were used as controls. Sequencing results were analysed using CodonCode Aligner Software. Seven of the 16 family members in three generations were AI patients. Six AI patients also had IGH, while the other only had AI. One had IGH without AI. All AI patients carried the mutation, c.218delC, located in exon 4 of NCSTN. The deletion mutation led to a reading frame shift and the appearance of a premature termination codon (p.P73Lfs*15), resulting in the production of truncated protein. Family members without AI did not carry this mutation, in...Continue Reading

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Citations

Jul 3, 2019·The Australasian Journal of Dermatology·Xueli LiPeng Wang
May 21, 2019·Frontiers in Immunology·Paola M TricaricoSergio Crovella
Apr 11, 2021·The Journal of Investigative Dermatology·Gautham VellaichamyQing-Sheng Mi
Mar 7, 2020·The Journal of Investigative Dermatology·Sabine DuchateletAlain Hovnanian
Dec 18, 2020·Dermatology : International Journal for Clinical and Investigative Dermatology·Zhongshuai WangBaoxi Wang

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Methods Mentioned

BETA
PCR
electrophoresis

Software Mentioned

Mutation Taster
CodonCode Aligner
Wheeler Aligner ( BWA )
PolyPhen
bcftoos
SIFT
Samtools mpileup
Burrows
CADD
Primer

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