Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
A REVISION OF THE LISSENCEPHALY AND MILLER-DIEKER SYNDROME CRITICAL REGIONS IN CHROMOSOME 17P13.3
Autore:
CHONG SS; PACK SD; ROSCHKE AV; TANIGAMI A; CARROZZO R; SMITH ACM; DOBYNS WB; LEDBETTER DH;
Indirizzi:
UNIV CHICAGO,CTR GENET MED,5841 S MARYLAND AVE,MC 2050 CHICAGO IL 60637 NIH,NATL CTR HUMAN GENOME RES BETHESDA MD 20892 GEORGETOWN UNIV,MED CTR,INST MOL & HUMAN GENET WASHINGTON DC 20007 GEORGETOWN UNIV,MED CTR,DEPT PEDIAT WASHINGTON DC 20007 GEORGETOWN UNIV,MED CTR,DEPT OBSTET & GYNECOL WASHINGTON DC 20007 UNIV MILAN,OSPED SAN RAFFAELE,SERV GENET MED I-20127 MILAN ITALY UNIV MINNESOTA,SCH MED,DEPT NEUROL,DIV PEDIAT NEUROL MINNEAPOLIS MN 55455 UNIV MINNESOTA,SCH MED,DEPT PEDIAT MINNEAPOLIS MN 55455
Titolo Testata:
Human molecular genetics
fascicolo: 2, volume: 6, anno: 1997,
pagine: 147 - 155
SICI:
0964-6906(1997)6:2<147:AROTLA>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
INSITU HYBRIDIZATION; GENE; SUBUNIT;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
14
Recensione:
Indirizzi per estratti:
Citazione:
S.S. Chong et al., "A REVISION OF THE LISSENCEPHALY AND MILLER-DIEKER SYNDROME CRITICAL REGIONS IN CHROMOSOME 17P13.3", Human molecular genetics, 6(2), 1997, pp. 147-155

Abstract

Miller-Dieker syndrome (MDS) is a multiple malformation syndrome characterized by classical lissencephaly and a characteristic facies, It is associated with visible or submicroscopic deletions within chromosome band 17p13.3. Lissencephaly without facial dysmorphism has also beenobserved and is referred to as isolated lissencephaly sequence (ILS). Apparently partial and non-overlapping deletions of the 5' or 3' end of a candidate gene LIS1 in one ILS and one MDS patient had suggested that MDS was a single gene disorder, and that LIS1 spans in excess of 400 kb, However, the originally presumed 5' end of LIS1 was found to belong to the 14-3-3 epsilon gene residing more distally on 17p13.3. Wehave now isolated the correct 5' end of LIS1, constructed a similar to 500 kb genomic contig encompassing LIS1, and estimated its gene extent to be similar to 80 kb, Fluorescence in site hybridization analysisof an ILS patient with a de novo balanced translocation, as well as analysis of several other key MDS and ILS deletion patients, localizes the lissencephaly critical region within the LIS1 gene, Therefore, LIS1 remains the strongest candidate gene for the lissencephaly phenotypein ILS and MDS, Our analyses also suggest that additional genes distal to LIS1 may be responsible for the facial dysmorphology and other abnormalities seen in MDS but not in ILS patients, supporting our original concept of MDS as a contiguous gene deletion syndrome.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/03/20 alle ore 10:10:31