Article
Identification and Functional Characterization of Novel and Recurrent NTRK1 Variants in Chinese Families With Congenital Insensitivity to Pain With Anhidrosis: A Combined Clinical, Genetic, and Functional Study.
European journal of neurology - 1 May 2026
Ren Yaqiong, Cao Yue, Cheng Fangfang, Dai Jin, Zhang Yuan, Wang Xinxin, Chen Jiali, Zhou Lijun, Song Xiaoxiang, Wang Hongying
Abstract excerpt
BACKGROUND: Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive disorder caused by variants in the NTRK1 gene (encoding TrkA). The identification and functional analysis of these variants are essential for elucidating the genetic basis of the disease and improving diagnostic efficiency. In this study, we investigated four unrelated Chinese families with CIPA. METHODS: We employed...
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