Article
Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates.
Journal of medical genetics - 31 Dec 2024
Gana Simone, D'Abrusco Fulvio, Nicotra Roberta, Ghiberti Chiara, Catalano Guido, Rognone Elisa, Pichiecchio Anna, Signorini Sabrina, Valente Enza Maria
Abstract excerpt
Joubert syndrome (JS) is an inherited neurodevelopmental ciliopathy with wide clinical and genetic heterogeneity, whose paradigmatic sign is a peculiar cerebellar and brainstem malformation known as the 'molar tooth sign'. Recessive pathogenic variants in the HYLS1 gene are associated with hydrolethalus syndrome (HLS), a severe disorder characterised by multiple developmental defects leading to intrauterine or...
Topics
- Abnormalities, Multiple
- Cerebellum
- Eye Abnormalities
- Retina
- Kidney Diseases, Cystic
- Humans
- Male
- Adult
- Proteins
- Genotype
- Phenotype