Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.
Am J Med Genet
; 103(1): 75-80, 2001 Sep 15.
Article
em En
| MEDLINE
| ID: mdl-11562938
ABSTRACT
Smith-Lemli-Opitz syndrome (RHS) (SLOS, OMIM 270400) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations of the 3beta-hydroxysterol Delta(7)-Delta(8)-reductase gene, DHCR7. We report a fetus with holoprosencephaly and multiple congenital anomalies who was homozygous for the IVS8-1G-->C mutation. Following termination of pregnancy, both the elevated amniotic fluid 7-dehydrocholesterol level and the DHCR7 mutations were demonstrated. Two other newborn infants with IVS8-1G-->C/IVS8-1G-->C genotype are described. This report illustrates a severe phenotypic extreme of SLOS associated with a null genotype, underscores the complex relationship between SLOS and holoprosencephaly, and discusses the possible pathogenetic mechanisms of the development of holoprosencephaly in SLOS.
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Base de dados:
MEDLINE
Assunto principal:
Síndrome de Smith-Lemli-Opitz
/
Oxirredutases atuantes sobre Doadores de Grupo CH-CH
Idioma:
En
Ano de publicação:
2001
Tipo de documento:
Article