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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
PubMed
Summary
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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.

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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.