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Tytuł pozycji:

[Analysis of clinical feature and genetic basis of a rare case with Olmsted syndrome].

Tytuł:
[Analysis of clinical feature and genetic basis of a rare case with Olmsted syndrome].
Autorzy:
Lu J; 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. .
Hu R
Liu L
Ding H
Źródło:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jul 10; Vol. 38 (7), pp. 674-677.
Typ publikacji:
Case Reports; Journal Article
Język:
Chinese
Imprint Name(s):
Publication: <2004->: Chengdu, Sichuan, P.R. China : Sichuan University
Original Publication: Chengdu : Hua xi yi ke da xue,
MeSH Terms:
Keratoderma, Palmoplantar*/genetics
TRPV Cation Channels*/genetics
Child ; Female ; Heterozygote ; Humans ; Skin ; Syndrome
Substance Nomenclature:
0 (TRPV Cation Channels)
Entry Date(s):
Date Created: 20210711 Date Completed: 20210713 Latest Revision: 20210713
Update Code:
20240105
DOI:
10.3760/cma.j.cn511374-20200811-00597
PMID:
34247376
Czasopismo naukowe
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.

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