Coffin Lowry syndrome
Evidence-based neurology checklist on coffin lowry syndrome: Genetics This is caused by mutations in the RSK2 gene This encodes ribosomal S6 kinase 2 (RSK2) protein The transmission is X-linked semi-dominant Dysmorphic features Skeletal features Neurological features Cardiac features Other…
Genetics
- This is caused by mutations in the RSK2 gene
- This encodes ribosomal S6 kinase 2 (RSK2) protein
- The transmission is X-linked semi-dominant
Dysmorphic features
Skeletal features
Neurological features
Cardiac features
Other features
Differential diagnosis
Magnetic resonance imaging (MRI): features
Hand X-ray
References
- Hanauer A, Young ID. Coffin-Lowry syndrome: clinical and molecular features. J Med Genet 2002; 39:705-713.
- Jacquot S, Zeniou M, Touraine R, Hanauer A. X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1). Eur J Hum Genet 2002; 10:2-5.
- Nelson GB, Hahn JS. Stimulus-induced drop episodes in Coffin-Lowry syndrome. Pediatrics 2003; 111:e197-202.
- Hahn JS, Hanauer A. Stimulus-induced drop episodes in Coffin-Lowry syndrome. Eur J Med Genet 2012; 55:335-337.
- Nakamura M, Yamagata T, Mori M, Momoi MY. RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes. Brain Dev 2005; 27:114-117.
