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Titolo:
Mutation screening in Rett syndrome patients
Autore:
Xiang, FQ; Buervenich, S; Nicolao, P; Bailey, MES; Zhang, ZP; Anvret, M;
Indirizzi:
Karolinska Hosp, Dept Mol Med, Clin Neurogenet Unit, S-17176 Stockholm, Sweden Karolinska Hosp Stockholm Sweden S-17176 Unit, S-17176 Stockholm, Sweden Karolinska Inst, Dept Neurosci, Stockholm, Sweden Karolinska Inst Stockholm Sweden Inst, Dept Neurosci, Stockholm, Sweden Univ Padua, Dept Neurol & Psychiat, Neurol Clin 2, I-35100 Padua, Italy Univ Padua Padua Italy I-35100 hiat, Neurol Clin 2, I-35100 Padua, Italy Univ Glasgow, Inst Biomed & Life Sci, Div Mol Genet, Glasgow, Lanark, Scotland Univ Glasgow Glasgow Lanark Scotland ol Genet, Glasgow, Lanark, Scotland
Titolo Testata:
JOURNAL OF MEDICAL GENETICS
fascicolo: 4, volume: 37, anno: 2000,
pagine: 250 - 255
SICI:
0022-2593(200004)37:4<250:MSIRSP>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
SUBUNIT MESSENGER-RNAS; RAT-BRAIN; ANGELMAN SYNDROME; PROTEIN MECP2; UBIQUITIN; REGION; GENE; EXPRESSION; COMPLEX; XQ28;
Keywords:
Rett syndrome; mutation screening; in situ hybridisation; candidate gene;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
28
Recensione:
Indirizzi per estratti:
Indirizzo: Xiang, FQ Karolinska Hosp, Dept Mol Med, Clin Neurogenet Unit, CMM-L8-02, S-17176 Stockholm, Sweden Karolinska Hosp CMM-L8-02 Stockholm Sweden S-17176 holm, Sweden
Citazione:
F.Q. Xiang et al., "Mutation screening in Rett syndrome patients", J MED GENET, 37(4), 2000, pp. 250-255

Abstract

Rett syndrome (RTT) was first described in 1966. Its biological and genetic foundations were not clear until recently when Amir ef al reported that mutations in the IMECP2 gene were detected in around 50% of RTT patients. Inthis study, we have screened the MECP2 gene for mutations in our RTT material, including nine familial cases (19 Rett girls) and 59 sporadic cases. Atotal of 27 sporadic RTT patients were found to have mutations in the MECP2 gene, but no mutations were identified in our RTT families. In order to address the possibility of further X chromosomal or autosomal genetic factors in RTT,we evaluated six candidate genes for RTT selected on clinical, pathological, and genetic grounds: UBE1 (human ubiquitin activating enzyme Fl,located in chromosome Xp11.23), UBE2I (ubiquitin conjugating enzyme E2I, homologous to yeast UBC9, chromosome 16p13.3), GdX (ubiquitin-like protein, chromosome Xq28), SOX3 (SRY related HMG box gene: 3, chromosome Xq26-q27), GABRA3 (gamma-aminobutyric acid type A receptor alpha 3 subunit, chromosomeXq28), and CDR2 (cerebellar degeneration related autoantigen 2, chromosome16p12-p13.1). No mutations were detected in the coding regions of these six genes in 10 affected subjects and, therefore, alterations in the amino acid sequences of the encoded proteins can be excluded as having a causative role in RTT. Furthermore, gene expression of MECP2, GdX, GABRA3, and L1CAM (L1 cell adhesion molecule) was also investigated by in situ hybridisation. No gross differences were observed in neurones of several brain regions between normal controls and Rett patients.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/10/20 alle ore 01:10:52