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

American Journal of Human Genetics

Volumn 70, Issue 4, 2002, Pages 1034-1037

  Klauck, Sabine M ^a   Lindsay, Susan ^b   Beyer, Kim S ^a   Splitt, Miranda ^b,c   Burn, John ^b   Poustka, Annemarie ^a  

^a GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c GUY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; METHYL CPG BINDING PROTEIN 2; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME XQ; CPG ISLAND; DISEASE SEVERITY; FAMILIAL DISEASE; FAMILY STUDY; GENE MECP2; GENE MUTATION; HETEROZYGOTE; HUMAN; MACROORCHIDISM; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSYCHOSIS; PYRAMIDAL TRACT; SEX DIFFERENCE; SEX RATIO; X CHROMOSOME LINKED DISORDER;

EID: 0036207456     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/339553     Document Type: Article

References (20)

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
2. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
3. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
4. Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations
5. A detailed analysis of the MECP2 gene: Prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients
6. Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: Identification of several novel mutations and polymorphisms
7. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location
8. Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
9. MECP2 is highly mutated in X-linked mental retardation
10. PPM-X: A new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macro-orchidism maps to Xq28
11. A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
12. Solution structure of the methyl-CpG binding domain of the human MBD1 in complex with methylated DNA
13. MECP2 mutation in male patients with non-specific X-linked mental retardation
14. A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map
15. Neonatal encephalopathy in two boys in families with recurrent Rett syndrome
16. Rett syndrome: Confirmation of X-linked dominant inheritance, and localization of the gene to Xq28
17. Splitting and lumping in the nosology of XLMR
18. Two affected boys in a Rett syndrome family
19. Rett syndrome and beyond: Recurrent spontaneous and familial MEGP2 mutations at CpG hot spots
20. In-frame deletion in MECP2 causes mild nonspecific mental retardation