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Titolo:
MOLECULAR-GENETIC AND PHENOTYPIC ANALYSIS REVEALS DIFFERENCES BETWEENTSC1 AND TSC2 ASSOCIATED FAMILIAL AND SPORADIC TUBEROUS SCLEROSIS
Autore:
JONES AC; DANIELLS CE; SNELL RG; TACHATAKI M; IDZIASZCZYK SA; KRAWCZAK M; SAMPSON JR; CHEADLE JP;
Indirizzi:
UNIV WALES COLL MED,INST MED GENET,HEATH PK CARDIFF CF4 4XN S GLAM WALES UNIV WALES COLL MED,INST MED GENET CARDIFF CF4 4XN S GLAM WALES
Titolo Testata:
Human molecular genetics
fascicolo: 12, volume: 6, anno: 1997,
pagine: 2155 - 2161
SICI:
0964-6906(1997)6:12<2155:MAPARD>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
POLYCYSTIC KIDNEY-DISEASE; APC GENE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
23
Recensione:
Indirizzi per estratti:
Citazione:
A.C. Jones et al., "MOLECULAR-GENETIC AND PHENOTYPIC ANALYSIS REVEALS DIFFERENCES BETWEENTSC1 AND TSC2 ASSOCIATED FAMILIAL AND SPORADIC TUBEROUS SCLEROSIS", Human molecular genetics, 6(12), 1997, pp. 2155-2161

Abstract

Tuberous sclerosis (TSC) is an autosomal dominant disorder characterised by the development of hamartomatous growths in many organs, Sixty to seventy percent of cases are sporadic and appear to represent new mutations. TSC exhibits locus heterogeneity: the TSC2 gene is located at 16p13.3 whilst the TSC1 gene, predicted to encode a novel protein termed hamartin, has recently been cloned from 9q34, With the exception of a contiguous gene deletion syndrome involving TSC2 and PKD1, TSC1 and TSC2 phenotypes have been considered identical, We have now comprehensively defined the TSC1 mutational spectrum in 171 sequentially ascertained, unrelated TSC patients by single strand conformation polymorphism and heteroduplex analysis of all 21 coding exons, and by assayinga restriction fragment spanning the whole locus, Mutations were identified in 9/24 familial cases, but in only 13/147 sporadic cases, In contrast, a limited screen revealed TSC2 mutations in two of the familial cases and in 45 of the sporadic cases, Thus TSC1 mutations were significantly under-represented among sporadic cases (Fisher's exact p-value = 3.12 x 10(-4)). Both large deletions and missense mutations were common at the TSC2 locus whereas most TSC1 mutations were small truncating lesions. Mental retardation was significantly less frequent amongcarriers of TSC1 than TSC2 mutations (odds ratio 5.54 for sporadic cases only, 6.78 +/- 1.54 when a single randomly selected patient per multigeneration family was also included), No correlation between mentalretardation and the type of mutation was found, We conclude that there is a reduced risk of mental retardation in TSC1 as opposed to TSC2 disease and that consequent ascertainment bias, at least in part, explains the relative paucity of TSC1 mutations in sporadic TSC.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/01/21 alle ore 14:46:01