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Literature DB >> 8651288

PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28.

S Lindsay¹, M Splitt, S Edney, T P Berney, S J Knight, K E Davies, O O'Brien, M Gale, J Burn.

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.

Entities: Disease Gene

Mesh：

Substances：

Year: 1996 PMID： 8651288 PMCID： PMC1915053

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

27 in total

1. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.

Authors: E J Kremer; M Pritchard; M Lynch; S Yu; K Holman; E Baker; S T Warren; D Schlessinger; G R Sutherland; R I Richards
Journal: Science Date: 1991-06-21 Impact factor: 47.728

2. Rapid PCR analysis of the St14 (DXS52) VNTR.

Authors: B Richards; R Heilig; I Oberlé; L Storjohann; G T Horn
Journal: Nucleic Acids Res Date: 1991-04-25 Impact factor: 16.971

3. Dinucleotide repeat polymorphism in the human X-linked GABAA receptor alpha 3-subunit gene.

Authors: A A Hicks; K J Johnson; E A Barnard; M G Darlison
Journal: Nucleic Acids Res Date: 1991-07-25 Impact factor: 16.971

4. Localisation of the MRX3 gene for non-specific X linked mental retardation.

Authors: A Gedeon; B Kerr; J Mulley; G Turner
Journal: J Med Genet Date: 1991-06 Impact factor: 6.318

5. Chromosomal localization of GABAA receptor subunit genes: relationship to human genetic disease.

Authors: V J Buckle; N Fujita; A S Ryder-Cook; J M Derry; P J Barnard; R V Lebo; P R Schofield; P H Seeburg; A N Bateson; M G Darlison
Journal: Neuron Date: 1989-11 Impact factor: 17.173

6. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors: J Ott
Journal: Am J Hum Genet Date: 1974-09 Impact factor: 11.025

7. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.

Authors: A J Verkerk; M Pieretti; J S Sutcliffe; Y H Fu; D P Kuhl; A Pizzuti; O Reiner; S Richards; M F Victoria; F P Zhang
Journal: Cell Date: 1991-05-31 Impact factor: 41.582

8. Waisman syndrome, a human X-linked recessive basal ganglia disorder with mental retardation: localization to Xq27.3-qter.

Authors: R G Gregg; A B Metzenberg; K Hogan; G Sekhon; R Laxova
Journal: Genomics Date: 1991-04 Impact factor: 5.736

Review 8. MECP2 mutations in males.

Authors: Laurent Villard
Journal: J Med Genet Date: 2007-03-09 Impact factor: 6.318

9. Adult Phenotypes in Angelman- and Rett-Like Syndromes.

Authors: M H Willemsen; J H M Rensen; H M J van Schrojenstein-Lantman de Valk; B C J Hamel; T Kleefstra
Journal: Mol Syndromol Date: 2012-01-13

9 in total

PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28.

1. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.

2. Rapid PCR analysis of the St14 (DXS52) VNTR.

3. Dinucleotide repeat polymorphism in the human X-linked GABAA receptor alpha 3-subunit gene.

4. Localisation of the MRX3 gene for non-specific X linked mental retardation.

5. Chromosomal localization of GABAA receptor subunit genes: relationship to human genetic disease.

6. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

7. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.

8. Waisman syndrome, a human X-linked recessive basal ganglia disorder with mental retardation: localization to Xq27.3-qter.

9. Genetic linkage between X-chromosome markers and bipolar affective illness.

10. An X-linked recessive basal ganglia disorder with mental retardation.

1. A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28.

2. Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28.

3. Finding genes on the X chromosome by which homo may have become sapiens.

4. A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.

5. Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With MECP2 Variant.

Review 6. Fragility Extraordinaire: Unsolved Mysteries of Chromosome Fragile Sites.

Review 7. Chromosomal abnormalities and schizophrenia.

Review 8. MECP2 mutations in males.

9. Adult Phenotypes in Angelman- and Rett-Like Syndromes.