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Titolo:
CLINICAL AND BIOCHEMICAL SPECTRUM OF PATIENTS WITH RSH SMITH-LEMLI-OPITZ SYNDROME AND ABNORMAL CHOLESTEROL-METABOLISM/
Autore:
CUNNIFF C; KRATZ LE; MOSER A; NATOWICZ MR; KELLEY RI;
Indirizzi:
KENNEDY KRIEGER INST,707 N BROADWAY BALTIMORE MD 21205 KENNEDY KRIEGER INST BALTIMORE MD 21205 UNIV ARIZONA,STEELE MEM CHILDRENS RES CTR,DEPT PEDIAT TUCSON AZ 00000 JOHNS HOPKINS UNIV BALTIMORE MD 00000 EUNICE KENNEDY SHRIVER CTR MENTAL RETARDAT INC WALTHAM MA 02154 MASSACHUSETTS GEN HOSP BOSTON MA 02114
Titolo Testata:
American journal of medical genetics
fascicolo: 3, volume: 68, anno: 1997,
pagine: 263 - 269
SICI:
0148-7299(1997)68:3<263:CABSOP>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
DIAGNOSIS; PLASMA; IDENTIFICATION; BIOSYNTHESIS; ACIDS;
Keywords:
RSH/SMITH-LEMLI-OPITZ SYNDROME; 7-DEHYDROCHOLESTEROL; CHOLESTEROL METABOLISM; AUTOSOMAL RECESSIVE INHERITANCE; INBORN ERROR OF METABOLISM;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
24
Recensione:
Indirizzi per estratti:
Citazione:
C. Cunniff et al., "CLINICAL AND BIOCHEMICAL SPECTRUM OF PATIENTS WITH RSH SMITH-LEMLI-OPITZ SYNDROME AND ABNORMAL CHOLESTEROL-METABOLISM/", American journal of medical genetics, 68(3), 1997, pp. 263-269

Abstract

RSH/Smith-Lemli-Opitz (RSH/SLO) syndrome is an autosomal recessive malformation syndrome recently shown to be associated with a severe deficiency of cholesterol biosynthesis and markedly elevated plasma and tissue levels of 7-dehydrocholesterol (7-DHC), the immediate precursor of cholesterol in the Kandutsch-Russell biosynthetic pathway. Because these biochemical abnormalities permit a reassessment of RSH/SLO on biochemical criteria rather than less specific physical criteria, we review here the clinical and biochemical characteristics of our first 80 patients with abnormally increased levels of 7-DHC. The study population included 68 index patients and 12 additional relatives identified byquantification of 7-DHC and cholesterol in plasma, amniotic fluid, orcultured fibroblasts, lymphoblasts, or amniocytes. As demonstrated inother clinical syndromes when redefined biochemically, we have found a wider range of clinical expression of RSH/SLO than previously recognized. These newly recognized atypical RSH/SLO patients included several with no malformations other than syndactyly of the toes and, at the other extreme, patients with frank holoprosencephaly or multiple visceral anomalies who died in utero. Syndactyly of toes 2 and 3 was the most common malformation, occurring in all but one of 80 patients. The best biochemical predictor of clinical severity was the plasma cholesterol level, which decreased with increasing clinical severity. However,at least 10% of patients, including one newborn infant, had normal cholesterol levels at the time of diagnosis and would have been missed without specific quantification of 7-DHC. Not unexpectedly, several patients carrying a clinical diagnosis of RSH/SLO were found to have normal levels of all plasma sterols and apparently normal cholesterol biosynthesis in cultured cells. A comparison of the frequency of anomaliesin our biochemically identified patients with similar data from previously reported clinical series suggests that up to 25% of reports of RSH/SLO in the literature may describe genetic conditions other than RSH/SLO with 7-DHC-emia. (C) 1997 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/04/20 alle ore 21:40:30