Analysis of clinical feature and genetic basis of a rare case with Olmsted syndrome.
10.3760/cma.j.cn511374-20200811-00597
- Author:
Jian LU
1
;
Rong HU
;
Ling LIU
;
Hongke DING
Author Information
1. Medical Genetic Center of Guangdong Women and Children Hospital, Key Laboratory of Maternal and Children's Metabolic-Genetic Diseases of Guangdong Province, Guangzhou, Guangdong 511442, China. lxjian326@foxmail.com.
- Publication Type:Journal Article
- MeSH:
Child;
Female;
Heterozygote;
Humans;
Keratoderma, Palmoplantar/genetics*;
Skin;
Syndrome;
TRPV Cation Channels/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(7):674-677
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical and genetic characteristics of a patient featuring autosomal dominant Olmsted syndrome.
METHODS:Clinical features of the patient was reviewed. High-throughput sequencing was carried out to detect potential genetic variants.
RESULTS:The proband, a 12-year-old girl, featured excessive keratinization on hands and feet, contracture of finger joints, and abnormal position and residual contraction of the fifth toes. Skin biopsy showed significant hyperkeratosis, epidermal hyperplasia, and mild interepidermal cell edema. A de novo heterozygous missense variant c.2016G>T(p.Met672Ile) was identified in the TRPV3 gene by high-throughout sequencing. The result was verified by Sanger sequencing.
CONCLUSION:The destructive palmoplantar keratosis in the child may be attributed to the c.2016G>T(p.Met672Ile) variant of the TRPV3 gene. Aboving finding has provided new evidence for the correlation of genetic variants with clinical phenotypes of Olmsted syndrome.
