[Tricho-rhino-phalangeal syndrome with TRPS1 gene variation in 3 children]

Y P Han; X M Wang; Y Q Chen

doi:10.3760/cma.j.cn112140-20240321-00195

[Tricho-rhino-phalangeal syndrome with TRPS1 gene variation in 3 children]

Zhonghua Er Ke Za Zhi. 2024 Oct 2;62(10):995-997. doi: 10.3760/cma.j.cn112140-20240321-00195.

[Article in Chinese]

Authors

Y P Han¹, X M Wang², Y Q Chen¹

Affiliations

¹ Department of Endocrinology and Metabolism, Anhui Provincial Children's Hospital, Hefei 230000, China.
² Department of Endocrinology,Genetics and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University, Shanghai 200127, China.

PMID: 39327968
DOI: 10.3760/cma.j.cn112140-20240321-00195

Abstract

2例患儿因毛发稀少就诊，1例患儿因双手指关节畸形就诊，就诊年龄分别为14岁、10岁3月龄、8岁6月龄，3例患儿均有毛发稀少、梨形鼻、双手指间关节畸形。基因检测结果示例1患儿TRPS1基因存在c.1870C>T和c.1859C>G杂合变异；例2患儿TRPS1基因存在c.877dupC杂合变异；例3患儿TRPS1基因存在c.3208G>T杂合变异。结合患儿临床表现及遗传学检测结果，3例患儿均诊断为毛发-鼻-指（趾）综合征，报道罕见。.

Publication types

Case Reports

MeSH terms

Adolescent
Child
DNA-Binding Proteins* / genetics
Endonucleases / genetics
Female
Fingers* / abnormalities
Hair Diseases / diagnosis
Hair Diseases / genetics
Heterozygote
Humans
Langer-Giedion Syndrome* / diagnosis
Langer-Giedion Syndrome* / genetics
Male
Mutation
Nose* / abnormalities
Repressor Proteins* / genetics
Transcription Factors* / genetics

Substances

TRPS1 protein, human
Repressor Proteins
Transcription Factors
DNA-Binding Proteins
Endonucleases

Supplementary concepts

Trichorhinophalangeal Syndrome, Type I