Prenatal diagnosis in Coffin-Lowry syndrome demonstrates germinal mosaicism confirmed by mutation analysis.

Abstract

Coffin-Lowry syndrome is a rare X-linked, semi-dominant mental retardation syndrome resulting from mutations of the ribosomal S6 kinase 2 (RSK2) gene. In the present report, a male patient affected with Coffin-Lowry syndrome is shown to have a nonsense mutation of the RSK2 gene. His unaffected mother does not have this mutation in her lymphocytes. In her third pregnancy prenatal diagnosis by mutation analysis has detected gonadal mosaicism. As this is the second report of germinal mosaicism in Coffin-Lowry syndrome, the finding has important implication for genetic counselling.

• Authors: D Horn, J P Delaunoy, J Kunze
• Journal: Prenatal diagnosis (Prenat Diagn) Vol. 21 Issue 10 Pg. 881-4 (Oct 2001) ISSN: 0197-3851 [Print] England
• PMID: 11746134 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2001 John Wiley & Sons, Ltd.

Chemical References

• Codon, Nonsense
• Ribosomal Protein S6 Kinases

Topics

• Adult
• Base Sequence
• Chorionic Villi Sampling
• Codon, Nonsense
• Craniofacial Abnormalities (genetics)
• DNA Mutational Analysis
• Exons
• Female
• Genetic Linkage
• Humans
• Infant, Newborn
• Intellectual Disability (genetics)
• Male
• Mosaicism
• Muscle Hypotonia (genetics)
• Polymerase Chain Reaction
• Polymorphism, Single-Stranded Conformational
• Pregnancy
• Prenatal Diagnosis
• Ribosomal Protein S6 Kinases (genetics)
• Sequence Analysis, DNA
• Syndrome
• X Chromosome