Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq

American Journal of Medical Genetics

Volumn 90, Issue 1, 2000, Pages 69-71

  Amir, Ruthie ^a   Roth Dahle, E Jill ^a   Toriolo, Daniela ^b   Zoghbi, Huda Y ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b CNR   (Italy)

Author keywords

Mutation analysis; Rett syndrome; Single nucleotide polymorphisms

Indexed keywords

GLUTAMATE RECEPTOR; RECEPTOR SUBUNIT; SYNAPTOBREVIN;

ARTICLE; CHROMOSOME XQ; CLINICAL ARTICLE; CONTROLLED STUDY; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; HUMAN; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETT SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; X CHROMOSOME DOMINANT DISORDER;

BASE SEQUENCE; DNA, COMPLEMENTARY; HUMANS; MOLECULAR SEQUENCE DATA; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTON-TRANSLOCATING ATPASES; RECEPTORS, AMPA; RECEPTORS, GABA; RETT SYNDROME; VACUOLAR PROTON-TRANSLOCATING ATPASES; X CHROMOSOME;

EID: 0033989812     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000103)90:1<69::AID-AJMG12>3.0.CO;2-W     Document Type: Article

References (12)

1. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. 1999. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23:185-188.
2. Chen CY, Zollo M, Mazzerella R, Ciccodicola A, Chen C, Zuo L, Heiner C, Burough F, Repetto M, Schlessinger D, D'Urso M. 1996. Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD Loci. Hum Mol Genet 5:659-668.
3. D'Esposito M, Ciccodicola A, Gianfrancesco F, Esposito T, Flagiello L, Mazzerella R, Schlessinger D, D'Urso M. 1996. A synaptobrevin-like gene in the Xq28 pseudoautosomal region undergoes X inactivation. Nat Genet 13:227-229.
4. Ellison KA, Fill CP, Terwilliger J, DeGennaro LJ, Martin-Gallado A, Anvert M, Percy AK, Ott J, Zoghbi HY. 1992. Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation in multilocus linkage analysis. Am J Hum Genet 50:278-287.
5. Hagberg B, Aicardi J, Dias K, Ramos O. 1983. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol 14:471-479.
6. Lappalainen R, Riikonen RS. 1996. High levels of cerebrospinal fluid glutamate in Rett syndrome. Pediatr Neurol 15:213-216.
7. Maestrini L, Tamagnone L, Longati P, Cremona O, Gulisano M, Bione S, Tamanini F, Neel BG, Toniolo D, Comoglio PM. 1996. A family of transmembrane proteins with homology to the MET-Hepatocyte growth factor receptor. Proc Natl Acad Sci USA 93:674-678.
8. Schanen NC, Roth Dahle EJ, Capozzoli F, Holm V, Zoghbi HY, Franke U. 1997. A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. Am J Hum Genet 61:634-641.
9. Sirianni N, Naidu S, Pereira J, Pillotto RF, Hoffman EP. 1998. Rett syndrome: confirmation of X-linked dominant inheritance and localization of the gene to Xq28. Am J Hum Genet 63:1552-1558.
10. Söllner T, Whiteheart SW, Brunner M, Erdjument-Bromage H, Germonas S, Tempst P, Rothman JE. 1993. SNAP receptors implicated in vesicle targeting and fusion. Nature 362:318-323.
11. A neurotransmitter receptor. Genomics 45:1-10.
12. Zoghbi HY, Percy AK, Schultz RJ, Fill C. 1990. Patterns of X chromosome inactivation in Rett Syndrome. Brain Dev 12:131-135.