title: PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28.
abstract: We report a three-generation family manifesting a previously undescribed X-linked mental retardation syndrome. Four of the six moderately retarded males have had episodes of manic-depressive psychosis. The phenotype also includes pyramidal signs, Parkinsonian features, and macroorchidism, but there are no characteristic dysmorphic facial features. Affected males do not show fragile sites at distal Xq on cytogenetic analysis, nor do they have expansions of the CGG repeats at the FRAXA, FRAXE, or FRAXF loci. Linkage analyses were undertaken, and a maximal LOD score of 3.311 at theta = .0 was observed with the microsatellite marker DXS1123 in Xq28. A recombination was detected in one of the affected males with DXS1691 (Xq28), which gives the proximal boundary of the localization. No distal recombination has been detected at any of the loci tested.
authors.affiliation: Department of Human Genetics, Newcastle upon Tyne, United Kingdom.
authors.forename: S
authors.initials: S
authors.lastname: Lindsay
authors.forename: M
authors.initials: M
authors.lastname: Splitt
authors.forename: S
authors.initials: S
authors.lastname: Edney
authors.forename: T P
authors.initials: TP
authors.lastname: Berney
authors.forename: S J
authors.initials: SJ
authors.lastname: Knight
authors.forename: K E
authors.initials: KE
authors.lastname: Davies
authors.forename: O
authors.initials: O
authors.lastname: O'Brien
authors.forename: M
authors.initials: M
authors.lastname: Gale
authors.forename: J
authors.initials: J
authors.lastname: Burn
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002874:Chromosome Mapping; D017931:DNA Primers; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007360:Intelligence / Q000235:genetics; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011618:Psychotic Disorders / Q000235:genetics*; D013577:Syndrome; D013737:Testis / Q000002:abnormalities*; D014960:X Chromosome
chemical_list: D017931:DNA Primers; D005819:Genetic Markers