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Coffin-Lowry syndrome: a multicenter study
S Gilgenkrantz1, P Mujica, P Gruet
1Unité de Génétique, Université de Nancy, France.
Clinical Genetics
|October 1, 1988
Summary
Coffin-Lowry syndrome is an inherited disorder causing intellectual disability, distinctive facial features, and skeletal issues. Its severe presentation in males and lack of male-to-male transmission strongly suggest X-linked inheritance patterns.
Area of Science:
- Genetics
- Clinical Medicine
- Pediatrics
Background:
- Coffin-Lowry syndrome (CLS) is a rare genetic disorder.
- It is characterized by intellectual disability, facial dysmorphism, and skeletal abnormalities.
- Previous observations suggested a possible genetic basis for CLS.
Observation:
- This study details seven families diagnosed with Coffin-Lowry syndrome.
- The families were identified across five European centers.
- Clinical data on affected individuals were collected and analyzed.
Findings:
- Severe manifestations of Coffin-Lowry syndrome were predominantly observed in males.
- No instances of male-to-male transmission were reported in the studied families.
- These observations strongly support an X-linked pattern of inheritance for CLS.
Implications:
- Understanding the X-linked inheritance of Coffin-Lowry syndrome is crucial for genetic counseling.
- This finding aids in predicting recurrence risks within families.
- Further research can focus on the specific gene(s) located on the X chromosome responsible for CLS.