PMID: 9441870Jan 27, 1998Paper

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

Biochemical and Molecular Medicine
W B RizzoV De Laurenzi

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.

References

Jan 1, 1992·Journal of Inherited Metabolic Disease·T L KelsonW B Rizzo
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Jul 1, 1994·Prenatal Diagnosis·W B RizzoR J Gardner
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Citations

Feb 22, 2001·Pediatric Neurology·E M Kaye
Dec 16, 2005·Pediatric Dermatology·Heather A Brandling-Bennett, Marilyn G Liang
Mar 5, 2003·Journal of Biochemical and Molecular Toxicology·Norman E Sládek
Aug 30, 2011·Journal of the Neurological Sciences·Catherine SarretOdile Boespflug-Tanguy
Aug 12, 2009·Molecular and Cellular Probes·Yiran WangY-H Percival Zhang
May 8, 1999·The Journal of Investigative Dermatology·M A WillemsenR J Wanders
Aug 23, 2016·Expert Opinion on Orphan Drugs·William B Rizzo
Sep 29, 2004·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Gabriele Richard
Feb 29, 2000·Neonatal Network : NN·C A Prows, P L Bender
Sep 13, 2019·Ophthalmic Genetics·Samiksha Fouzdar-JainWilliam B Rizzo
Oct 5, 2012·Journal of Child Neurology·Kathleen DavisWilliam B Rizzo
Jun 20, 2003·Progress in Lipid Research·Mridul MukherjiMatthew D Lloyd

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