Clinical and genetic spectrum of CASK-related disorders in Chinese patients - PubMed
3 days ago
- #CASK disorders
- #Chinese patients
- #Genetic spectrum
- CASK-related disorders are rare X-linked neurological conditions associated with developmental delay and intellectual disability.
- The study analyzed 21 Chinese patients (18 females, 3 males) with CASK variants using whole-exome sequencing and copy number variant sequencing.
- Twenty CASK alterations were identified, including 12 novel variants and five copy number alterations.
- Clinical phenotypes included severe developmental delay, intellectual disability, microcephaly, muscle tone abnormalities, feeding difficulties, low weight gain, and seizures.
- Female patients had more CASK-related neurodevelopmental disorders and milder clinical manifestations compared to male patients.
- In Chinese patients, seizure onset was earlier and severe ophthalmologic problems were less common compared to previous reports from other countries.
- The study highlights CASK as a disease-causing gene for unexplained intellectual disability, with unique features in the Chinese population.