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Titolo:
MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern
Autore:
Nielsen, JB; Henriksen, KF; Hansen, C; Silahtaroglu, A; Schwartz, M; Tommerup, N;
Indirizzi:
Univ Copenhagen, Rigshosp 4062, Dept Clin Genet, DK-2100 Copenhagen O, Denmark Univ Copenhagen Copenhagen Denmark O enet, DK-2100 Copenhagen O, Denmark Univ Copenhagen, Panum Inst, IMBG, Dept Med Genet, DK-2200 Copenhagen, Denmark Univ Copenhagen Copenhagen Denmark DK-2200 , DK-2200 Copenhagen, Denmark John F Kennedy Inst, DK-2600 Glostrup, Denmark John F Kennedy Inst Glostrup Denmark DK-2600 , DK-2600 Glostrup, Denmark
Titolo Testata:
EUROPEAN JOURNAL OF HUMAN GENETICS
fascicolo: 3, volume: 9, anno: 2001,
pagine: 178 - 184
SICI:
1018-4813(200103)9:3<178:MMIDPW>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
CPG-BINDING PROTEIN; LINKED INHERITANCE; SEQUENCE-ANALYSIS; EXCLUSION MAP; GENE;
Keywords:
Rett syndrome; mutations; MECP2; X-inactivation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: Nielsen, JB Univ Copenhagen, Rigshosp 4062, Dept Clin Genet, Blegdansvej 9, DK-2100 Copenhagen O, Denmark Univ Copenhagen Blegdansvej 9 Copenhagen Denmark O O, Denmark
Citazione:
J.B. Nielsen et al., "MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern", EUR J HUM G, 9(3), 2001, pp. 178-184

Abstract

Rett syndrome (RTT) is a neurodevelopmental disorder, which almost exclusively affects girls, who, after an initial period of apparently normal development, display gradual loss of speech and purposeful hand use, gait abnormalities and stereotypical hand movements. In the year 2000, mutations in the gene for the methyl CpG binding protein 2, MECP2, have been identified in35-80% of the patients in three different studies. We have identified 15 different MECP2 mutations in 26 of 30 Danish RTT patients. The mutations included five novel mutations (one point mutation, three smaller deletions involving identical regions in the gene, and one duplication). In contrast to the point mutations and the duplication, which all affect the methyl binding domain or the transcriptional repressing domain, the three overlapping deletions are clustered in the 3 ' end of the gene. We found no consistent correlation between the type of mutation and the clinical presentation of thepatient or the X-inactivation pattern in peripheral blood. Our high mutation detection rate, compared to two of the previous studies, underscores theimportance of the inclusion criteria of the patients and supports that MECP2 is the most important, if not the only, gene responsible for RTT.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/01/20 alle ore 22:05:37