| A missense mutation in the FALDH gene identified in Sjogren-Larsson syndrome patients originating from the northern part of Sweden |
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| Author(s): Sillen A, Jagell S, Wadelius C |
| Source: HUMAN GENETICS Volume: 100 Issue: 2 Pages: 201-203 Published: AUG 1997 |
| Times Cited: 23 References: 6 |
| Abstract: Sjogren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by congenital ichthyosis, spastic di- or tetraplegia, and mental retardation. SLS has been reported to occur in many populations but the highest incidence is in the north of Sweden. The gene causing SLS encodes a fatty aldehyde dehydrogenase (FALDH). In the present study, a point mutation in exon 7 of the FALDH gene was found in SLS patients of northern Swedish origin. The mutation consists of a C-to-T exchange at nucleotide position 943 in the cDNA. As a consequence, a highly conserved proline is replaced by a serine. The mutation was found in 49 out of 58 affected chromosomes and could be the most widely spread SLS mutation in the world. |
| Document Type: Article |
| Language: English |
| Reprint Address: Sillen, A (reprint author), UNIV UPPSALA HOSP, DEPT CLIN GENET, S-75185 UPPSALA, SWEDEN |
Addresses:
1. HABILITAT UNIT, GAVLE, SWEDEN |
| Publisher: SPRINGER VERLAG, 175 FIFTH AVE, NEW YORK, NY 10010 |
| Subject Category: Genetics & Heredity |
| IDS Number: XL686 |
| ISSN: 0340-6717 |