What question did this study set out to answer?

This research aims to identify and functionally characterize novel NTRK1 variants linked to congenital insensitivity to pain (CIPA).

April 27, 2026European Journal of Neurology0 citationsOpen Access

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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

YRYaqiong RenSoochow University YCYue CaoNortheast Agricultural University FCFangfang ChengSoochow University

Key Points

This research aims to identify and functionally characterize novel NTRK1 variants linked to congenital insensitivity to pain (CIPA).
Clinical assessment of families with CIPA.
Genetic sequencing to identify NTRK1 variants.
Functional studies to analyze the impact on the NGF-TrkA pathway.
Identified two novel NTRK1 variants associated with CIPA.
Established a connection between specific variants and phenotypic severity.
Provided a foundation for potential personalized therapies for CIPA patients.

Abstract

Our findings expand the mutational spectrum of NTRK1 with two novel variants associated with CIPA and delineate the specific step(s) within the NGF-TrkA pathway affected by each variant, thereby establishing a link between genotype and the observed phenotypic severity. This study provides a crucial theoretical and experimental foundation for the future development of personalized therapies for CIPA patients.

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Cite This Study

Ren et al. (Sat,) studied this question.

synapsesocial.com/papers/69eefcf4fede9185760d3c55 https://doi.org/https://doi.org/10.1111/ene.70610

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