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Titolo:
MUTATIONAL SPECTRUM OF THE STEROID 21-HYDROXYLASE GENE IN SWEDEN - IMPLICATIONS FOR GENETIC DIAGNOSIS AND ASSOCIATION WITH DISEASE MANIFESTATION
Autore:
WEDELL A; THILEN A; RITZEN EM; STENGLER B; LUTHMAN H;
Indirizzi:
KAROLINSKA HOSP,ROLF LUFT CTR DIABET RES,DEPT CLIN GENET S-17176 STOCKHOLM SWEDEN KAROLINSKA HOSP,DEPT PEDIAT S-17176 STOCKHOLM SWEDEN
Titolo Testata:
The Journal of clinical endocrinology and metabolism
fascicolo: 5, volume: 78, anno: 1994,
pagine: 1145 - 1152
SICI:
0021-972X(1994)78:5<1145:MSOTS2>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
CONGENITAL ADRENAL-HYPERPLASIA; POINT MUTATIONS; DEFICIENCY; CYP21; COMPLEMENT; HAPLOTYPES; PSEUDOGENE; COMPONENT; GENOTYPE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
34
Recensione:
Indirizzi per estratti:
Citazione:
A. Wedell et al., "MUTATIONAL SPECTRUM OF THE STEROID 21-HYDROXYLASE GENE IN SWEDEN - IMPLICATIONS FOR GENETIC DIAGNOSIS AND ASSOCIATION WITH DISEASE MANIFESTATION", The Journal of clinical endocrinology and metabolism, 78(5), 1994, pp. 1145-1152

Abstract

We have characterized the disease-causing mutations in the steroid 21-hydroxylase genes of 127 patients with different clinical forms of congenital adrenal hyperplasia, representing 186 unrelated chromosomes. The gene was completely absent on 29.8% of the chromosomes, and this together with the I2 splice (27.7%), I173N (20.8%), V282L (5.4%), and R357W (3.8%) mutations constitute 87.5% of all affected chromosomes. Intotal, 15 different sequence aberrations combine to form 19 differentdisease-causing alleles. The results confirm that genotyping is an efficient means of diagnosing steroid 21-hydroxylase deficiency, although special consideration is needed to resolve genotypes when full families are not available. Clinical presentations of the different combinations of mutations indicate that genotyping is reliable for predictionof clinical outcome in patients with 21-hydroxylase deficiency. It isespecially helpful in determining whether in, utero treatment of affected females is indicated and in classifying the severity of 81-hydroxylase deficiency in children diagnosed through neonatal screening, before symptoms have appeared.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/11/20 alle ore 19:46:29