title: 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.affiliation: Institute of Human Genetics, Charité, Humboldt University, Berlin, Germany. denise.horn@charite.de
authors.forename: D
authors.initials: D
authors.lastname: Horn
authors.forename: J P
authors.initials: JP
authors.lastname: Delaunoy
authors.forename: J
authors.initials: J
authors.lastname: Kunze
mesh_terms: D000328:Adult; D001483:Base Sequence; D015193:Chorionic Villi Sampling; D018389:Codon, Nonsense; D019465:Craniofacial Abnormalities / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D009123:Muscle Hypotonia / Q000235:genetics; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011247:Pregnancy; D011296:Prenatal Diagnosis; D019893:Ribosomal Protein S6 Kinases / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013577:Syndrome; D014960:X Chromosome
chemical_list: D018389:Codon, Nonsense; D019893:Ribosomal Protein S6 Kinases