Article
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.
Neurogenetics - 1 Oct 2021
Echaniz-Laguna Andoni, Altuzarra Cecilia, Verloes Alain, De La Banda Marta Gomez Garcia, Quijano-Roy Susana, Tudorache Raluca Anca, Jaxybayeva Altynshash, Myrzaliyeva Bakhytkul, Tazir Meriem, Vallat Jean-Michel, Francou Bruno, Urtizberea Jon Andoni
Abstract excerpt
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disease resulting from mutations in the NTRK1 gene encoding the neurotrophic tyrosine kinase-1 receptor. In this multicenter observational retrospective study, we investigated CIPA patients identified from French laboratories sequencing the NTRK1 gene, and seven patients were identified. Patients originated from France (2),...
Topics
- Child
- Child, Preschool
- Female
- Hereditary Sensory and Autonomic Neuropathies
- Humans
- Hypohidrosis
- Intellectual Disability
- Male
- Mutation
- Pain