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Article

Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome.

Molecular and cellular probes - 1 Aug 2002

Patrono C, Dionisi-Vici C, Giannotti A, Bembi B, Digilio M C, Rizzo C, Purificato C, Martini C, Pierini R, Santorelli F M

Abstract excerpt

We analyzed seven unrelated children with the Smith-Lemli-Opitz syndrome (SLOS) for mutations in the delta7-sterol reductase gene by using SSCP and direct sequencing. We identified two novel mutations (V330M and R363C) in the DHCR7 gene. Reported mutations found in this study were T93M (3/14 alleles), E448K (2/14), and W151X, G244R, P329L, and R446Q (each found in one allele). The so-called common IVS8-1 G --> C...

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Source

Identifiers

PMID: 12270273
DOI: 10.1006/mcpr.2002.0426

Genes

DHCR7

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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