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Article

Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome.

American journal of medical genetics - 13 Mar 2000

Patrono C, Rizzo C, Tessa A, Giannotti A, Borrelli P, Carrozzo R, Piemonte F, Bertini E, Dionisi-Vici C, Santorelli F M

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by minor facial anomalies, mental retardation, and multiple congenital abnormalities. Biochemically, the disorder is caused by deficient activity of 7-dehydrocholesterol reductase, which catalyzes the reduction of the Delta7 double bond of 7-dehydrocholesterol to produce cholesterol. Recently, mutations in the gene encoding...

Topics

Abnormalities, Multiple
Alleles
Alternative Splicing
Amino Acid Sequence
Child, Preschool
Chromatography, High Pressure Liquid
Fathers
Fibroblasts
Gas Chromatography-Mass Spectrometry
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Mothers

Mutation

Oxidoreductases

Oxidoreductases Acting on CH-CH Group Donors

Phenotype

Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 10748414
DOI: 10.1002/(sici)1096-8628(20000313)91:2<138::aid-ajmg12>3.0.co;2-q

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