Genotype-Phenotype Landscape of and -Related Disorders.

Date publication

avril 2025

Journal

Neurology

Auteurs

Membres identifiés du Cancéropôle Est :
Pr THAUVIN-ROBINET Christel

Tous les auteurs :
Parra-Díaz P, Monteil A, Calame D, Hadouiri N, Soliani L, Spinelli E, Caron EJ, Dieterich K, Kritzer A, Riley K, Serratosa Fernández JM, Tanner JA, Tevissen H, Thauvin C, Vera-Medialdea R, Waltz SM, Beltrán-Corbellini Á, García Morales I, Sánchez-Miranda Román I, Toledano R, Valls-Carbó A, Gil-Nagel A

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/40048676

Résumé

The NALCN channelosome regulates the resting membrane potential through sodium leak currents, influencing cellular excitability. Genetic variants in and , a subunit of the NALCN channelosome, cause ultra-rare and severe neurodevelopmental disorders. Autosomal dominant congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) syndrome is associated with gain-of-function (GOF) variants in . Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) 1 syndrome is associated with biallelic variants in and IHPRF 2 syndrome with biallelic variants in , both resulting in a loss-of-function (LOF). This study aims to expand the phenotypes associated with these syndromes, exploring potential genotype-phenotype associations.

Mots clés

Humans, Child, Female, Male, Child, Preschool, Adult, Infant, Adolescent, Young Adult, Membrane Proteins, genetics, Phenotype, Genetic Association Studies, Cross-Sectional Studies, Ion Channels, genetics, Developmental Disabilities, genetics, Neurodevelopmental Disorders, genetics, Genotype, Carrier Proteins

Référence

Neurology. 2025 04 8;104(7):e213429