Follicular occlusion triad in a family: a clinical survey and mutational analysis / 中华皮肤科杂志

ABSTRACT

Objective To observe the clinical features and to identify γ-secretase gene mutations in a Chinese family with follicular occlusion triad (FOT).Methods Clinical evaluation was carried out in a family with FOT through field investigation.Peripheral blood samples were obtained from the family members and 100 unrelated healthy controls.DNA was extracted from the blood samples,and PCR was performed to amplify all the coding regions of PSEN1,PSENEN and NCSTN genes followed by DNA sequencing and comparative analysis.Results There were 14 members over 3 generations in this family,of whom,6 (4 males and 2 females) were affected by FOT.FOT was inherited in an autosomal dominant manner in this family.Clinical manifestations varied greatly among the 4 surviving affected members.DNA sequencing revealed a novel missense mutation,c.647A ＞ C (p.Q216P),in the exon 6 of NCSTN gene in the proband,which was cosegregated perfectly with affected,but not with unaffected,members in the family.The mutation was not found in any of the unrelated controls and had not been registered in the single nucleotide polymorphism (SNP) database in NCBI.Conclusions There is a novel heterozygous missense mutation,c.647A＞C in the exon 6 of NCSTN gene,which may be the molecular basis of pathogenesis of FOT in this family.