Gene/phenotype/disorder under study
CASK / All phenotypes / OMIM : 300749 / ORPHA:163937
Abstract
The CASK gene plays a crucial role in brain development and function, and neurological impairment can lead to a wide range of clinical manifestations, including ophthalmological
disorders, sensorineural hearing loss, short stature, seizures, scoliosis, feeding difficulties, gastrointestinal dysfunction, and more.
To date, nearly 200 patients have been reported, but with few detailed descriptions of their neurological, extraneurological, and radiological phenotypes. The progression into adulthood is poorly understood, leaving a significant gap in terms of prognosis. Furthermore, as this is
an X-linked gene, there are very different phenotypes depending on the sex of the patient. The condition in boys is poorly described.
This study aims to provide:
1/ A detailed description of the clinical phenotypes associated with CASK gene variants, exploring the natural history of this rare neurogenetic disorder, establishing genotype-phenotype correlations, and identifying potential complications or comorbidities.
2/ With regard to epilepsy, the study will aim to provide a clearer picture of the frequency of epilepsy, the types of seizures, and the treatments used.
If you have patients with a CASK variant (ACMG class 4 or 5 pathogenic or likely pathogenic) and would like to participate in this study, please contact us.
Coordinating clinicians
Dr Lydie Burglen, Pr Stéphane Auvin, Dr Alexandra Afenjar – alexandra.afenjar@aphp.fr
Institution
Assistance Publique – Hôpitaux de Paris, Hôpital Armand Trousseau, Paris
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No