Coffin-Lowry syndrome: clinical and molecular features
1Institut de Génétique et du Biologie Moleculaire et Cellulaire, CNRS INSERM, UK.
Journal of Medical Genetics
|October 4, 2002
Summary
Coffin-Lowry syndrome (CLS) is a rare X-linked disorder causing severe intellectual disability and distinctive facial and hand abnormalities. Research identifies the RSK2 gene as the cause, with over 75 mutations found in patients.
Area of Science:
- Genetics
- Medical Genetics
- Developmental Biology
Background:
- Coffin-Lowry syndrome (CLS) is a rare X-linked disorder.
- Characterized by severe intellectual disability and distinctive facial and hand dysmorphism.
- Associated with short stature, skeletal deformities, and other organ system involvement.
Purpose of the Study:
- To summarize the key clinical and genetic features of Coffin-Lowry syndrome.
- To highlight the role of the RSK2 gene in CLS pathogenesis.
- To provide an overview of the known mutations and their impact.
Main Methods:
- Review of clinical data from affected individuals.
- Genetic analysis identifying mutations in the RSK2 gene.
- Literature review of published CLS cases and research.
Main Results:
- CLS presents with characteristic facial features (prominent forehead, hypertelorism, flat nasal bridge) and broad hands with tapering fingers.
- High prevalence of short stature (95%), pectus deformity (80%), and kyphoscoliosis (80%).
- The RSK2 gene, encoding a 740-amino acid protein, was identified as the causal gene, with over 75 distinct pathogenic mutations identified in 250 patients.
Conclusions:
- Coffin-Lowry syndrome is a complex genetic disorder with significant clinical manifestations.
- Mutations in the RSK2 gene are the primary cause of CLS.
- Understanding the genetic basis aids in diagnosis and potential therapeutic strategies.
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