title: Probable localisation of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint linkage analysis.
abstract: The Coffin-Lowry syndrome (McKusick No. 30360) is a rare genetically transmitted disorder characterized by severe mental retardation, "coarse" facial appearance, thick soft skin, tapering fingers, and progressive skeletal abnormalities. X-linked inheritance is implied since the males are severely affected with variably mild manifestations in carrier women. We have performed a linkage analysis with many X-linked RFLP markers in 4 families. Positive two-point lod scores were obtained with DXS28 (z(theta) = 2.00 at theta = 0.05) and DXS41 (z(theta) = 1.26 at theta = 0.10). We performed a 5-point linkage analysis using the LINKMAP program assuming that DXS16 and DXS43 are a single locus and using the following fixed map (distances in centimorgans): DXS85 - 18cM - (DXS16, DXS43) - 13cM - DXS41 - 5cM -DXS28. This gave a multipoint lod score of 3.41 for a localisation in Xp22.2-p22.1, between DXS43 and DXS41.
authors.affiliation: INSERM U 184 and LGME (CNRS) Faculté de Médecine, Strasbourg, France.
authors.forename: A
authors.initials: A
authors.lastname: Hanauer
authors.forename: Y
authors.initials: Y
authors.lastname: Alembik
authors.forename: S
authors.initials: S
authors.lastname: Gilgenkrantz
authors.forename: P
authors.initials: P
authors.lastname: Mujica
authors.forename: A
authors.initials: A
authors.lastname: Nivelon-Chevallier
authors.forename: M E
authors.initials: ME
authors.lastname: Pembrey
authors.forename: I D
authors.initials: ID
authors.lastname: Young
authors.forename: J L
authors.initials: JL
authors.lastname: Mandel
mesh_terms: D001848:Bone Diseases, Developmental / Q000235:genetics*; D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008126:Lod Score; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome
chemical_list: D005819:Genetic Markers