Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.

ABSTRACT: Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders exclusively or predominantly affecting the sensory and autonomic neurons. Due to the rarity of the diseases and findings based mainly on single case reports or small case series, knowledge about these disorders is limited. Here, we describe the molecular workup of a large international cohort of CIP/HSAN patients including patients from normally under-represented countries. We identify 80 previously unreported pathogenic or likely pathogenic variants in a total of 73 families in the >20 known CIP/HSAN-associated genes. The data expand the spectrum of disease-relevant alterations in CIP/HSAN, including novel variants in previously rarely reco

SUBMITTER: Lischka A 

PROVIDER: S-EPMC10689924 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature