title: 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.affiliation: Department of Pediatrics, Medical College of Virginia, Virginia Commonwealth University, Richmond 23298, USA.
authors.forename: W B
authors.initials: WB
authors.lastname: Rizzo
authors.forename: G
authors.initials: G
authors.lastname: Carney
authors.forename: V
authors.initials: V
authors.lastname: De Laurenzi
mesh_terms: D000445:Aldehyde Oxidoreductases / Q000235:genetics*; D000483:Alleles; D005060:Europe; D006801:Humans; D017384:Sequence Deletion / Q000235:genetics*; D016111:Sjogren-Larsson Syndrome / Q000201:enzymology / Q000235:genetics*
chemical_list: D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase