[一例罕见奥尔姆斯特德综合征病例的临床特征及遗传基础分析]
[Analysis of clinical feature and genetic basis of a rare case with Olmsted syndrome].
作者信息
Lu Jian, Hu Rong, Liu Ling, Ding Hongke
机构信息
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.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Jul 10;38(7):674-677. doi: 10.3760/cma.j.cn511374-20200811-00597.
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.
目的
分析一名常染色体显性遗传性奥姆斯特德综合征患者的临床及基因特征。
方法
回顾该患者的临床特征。进行高通量测序以检测潜在的基因变异。
结果
先证者为一名12岁女孩，表现为手足过度角化、手指关节挛缩、第五趾位置异常及残余收缩。皮肤活检显示明显的角化过度、表皮增生及轻度表皮内细胞水肿。通过高通量测序在TRPV3基因中鉴定出一个新发的杂合错义变异c.2016G>T（p.Met672Ile）。该结果经桑格测序验证。
结论
该患儿的破坏性掌跖角化病可能归因于TRPV3基因的c.2016G>T（p.Met672Ile）变异。上述发现为基因变异与奥姆斯特德综合征临床表型的相关性提供了新证据。
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