A common deletion mutation in European patients with Sjögren-Larsson syndrome.

Abstract

Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder characterized by ichthyosis, mental retardation, spasticity, and deficient activity of fatty aldehyde dehydrogenase (FALDH). We identified a frequent FALDH mutation in exon 9 among SLS probands of European descent. This mutation is a 2-bp deletion of nucleotides GA 1297-1298 and results in premature termination of translation at codon 435 along with substitution of Arg and Cys for Glu433 and Gly434 respectively. The GA del1297-8 mutation was found in 10 of 21 European SLS probands and could be readily detected using an allele-specific PCR method. This GA deletion mutation or a previously identified common point mutation 9C943Y) was present in 66% of the European SLS probands, and the two mutations together accounted for 48% of the SLS alleles. Screening European patients for these two common mutations should be useful for DNA-based diagnosis of SLS and genetic counseling.

• Authors: W B Rizzo, G Carney, V De Laurenzi
• Journal: Biochemical and molecular medicine (Biochem Mol Med) Vol. 62 Issue 2 Pg. 178-81 (Dec 1997) ISSN: 1077-3150 [Print] United States
• PMID: 9441870 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Aldehyde Oxidoreductases
• long-chain-aldehyde dehydrogenase

Topics

• Aldehyde Oxidoreductases (genetics)
• Alleles
• Europe
• Humans
• Sequence Deletion (genetics)
• Sjogren-Larsson Syndrome (enzymology, genetics)