Analysis of clinical feature and genetic basis of a rare case with Olmsted syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 674-677, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-888373
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Skin
/
Syndrome
/
Keratoderma, Palmoplantar
/
TRPV Cation Channels
/
Heterozygote
Type of study:
Prognostic study
Limits:
Child
/
Female
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
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