Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease
Autore:
Rosenberg, C; Wouters, CH; Szuhai, K; Dorland, R; Pearson, P; Poll-The, BT; Colombijn, RM; Bruning, M; Lindhout, D;
Indirizzi:
Leiden Univ, Dept Mol Cell Biol, Lab Cytochem & Cytometry, Med Ctr, NL-2333 AL Leiden, Netherlands Leiden Univ Leiden Netherlands NL-2333 AL NL-2333 AL Leiden, Netherlands Erasmus Univ, Dept Clin Genet, Rotterdam, Netherlands Erasmus Univ Rotterdam Netherlands t Clin Genet, Rotterdam, Netherlands Univ Utrecht, Med Ctr, Dept Med Genet, Utrecht, Netherlands Univ Utrecht Utrecht Netherlands , Dept Med Genet, Utrecht, Netherlands Univ Utrecht, Wilhelmina Childrens Hosp, Med Ctr, Metab Dept, Utrecht, Netherlands Univ Utrecht Utrecht Netherlands Ctr, Metab Dept, Utrecht, Netherlands Beatrixziekenhuis, Dept Paediat, Gorinchem, Netherlands BeatrixziekenhuisGorinchem Netherlands Paediat, Gorinchem, Netherlands Leiden Univ, Med Ctr, Dept Human & Clin Genet, Leiden, Netherlands Leiden Univ Leiden Netherlands Human & Clin Genet, Leiden, Netherlands
Titolo Testata:
EUROPEAN JOURNAL OF HUMAN GENETICS
fascicolo: 3, volume: 9, anno: 2001,
pagine: 171 - 177
SICI:
1018-4813(200103)9:3<171:ARSPWA>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
CPG-BINDING PROTEIN-2; IN-SITU HYBRIDIZATION; LINKAGE ANALYSIS; REPEAT FAMILY; MUTATION TYPE; GENE; MECP2; TRANSLOCATION; EXCLUSION; PHENOTYPE;
Keywords:
rett syndrome; X inactivation; ring X;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
39
Recensione:
Indirizzi per estratti:
Indirizzo: Rosenberg, C Leiden Univ, Dept Mol Cell Biol, Lab Cytochem & Cytometry, Med Ctr, Wassenaarseweg 72, NL-2333 AL Leiden, Netherlands Leiden Univ Wassenaarseweg 72 Leiden Netherlands NL-2333 AL
Citazione:
C. Rosenberg et al., "A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease", EUR J HUM G, 9(3), 2001, pp. 171-177

Abstract

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder, characterised by regression of development in young females. Recently, mutations in the MECP2 gene were found to be present in 80% of sporadic cases, but in much lower frequency (<30%) among familial cases. Several reports claim that the pattern of X chromosome inactivation (XCI) relates to the penetrance of RTT; in some cases skewed XCI is seen in Rett patients, and in others it isobserved among normal carriers. We present here a case of RTT with a 46,X,r(X) in which complete skewed inactivation of the ring was demonstrated. Further, no mutations were found in the MECP2 gene present on the intact X. Our data, in conjunction with two previously published cases of X chromosomeabnormalities in RTT, indicate that X chromosome rearrangements are sporadically associated with RTT in conjunction with extreme skewing of X inactivation. Based on our case and reported data, we discuss the evidence for a second X-linked locus for RTT associated with lower penetrance, and a different pattern of XCI, than for MECP2. This would result in a larger proportion of phenotypically normal carrier women transmitting the mutation for thisputative second locus, and account for the minority of sporadic and majority of familial cases that are negative for MECP2 mutations.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/01/20 alle ore 05:41:02