Molecular genetic study of a family affected with punctate palmoplantar keratoderma.
- VernacularTitle:一个点状掌跖角皮症家系的分子遗传学研究
- Author:
Yueqin JIA
1
;
Shaowei WANG
;
Yingyu ZHU
;
Dan LUO
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Base Sequence; Female; Frameshift Mutation; Heterozygote; Humans; Keratoderma, Palmoplantar; genetics; Male; Middle Aged; Molecular Sequence Data; Mutation; Pancreatic Elastase; genetics; Pedigree; Young Adult
- From: Chinese Journal of Medical Genetics 2017;34(3):369-372
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze the clinical characteristics and causative mutation in an ethnic Han Chinese family affected with punctate palmoplantar keratoderma (PPPK).
METHODSClinical characteristics and inheritance pattern of the family were analyzed. Two seriously affected individuals from the family were investigated by whole exome sequencing. Three healthy individuals from the family and 120 non-PPPK individuals were evaluated to validate the result.
RESULTSThe family was characterized by keratotic papules on the palms and soles, which gradually increased in size and number with age and coalesced with each other, particularly over the pressure part of the palms and soles. The family has featured autosomal dominant inheritance. A heterozygous frameshift variant c.419delC in exons of the CELA1 gene was identified in all affected individuals but not among non-affected members.
CONCLUSIONA heterozygous frameshift variant c.419delC in CELA1 gene probably underlies the disease in the family affected with PPPK.
