Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44
Détails
ID Serval
serval:BIB_3CA9AFC8C450
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44
Périodique
American Journal of Human Genetics
ISSN
0002-9297 (Print)
Statut éditorial
Publié
Date de publication
10/1999
Volume
65
Numéro
4
Pages
1054-9
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Oct
Research Support, Non-U.S. Gov't --- Old month value: Oct
Résumé
The Muckle-Wells syndrome (MWS) is a hereditary inflammatory disorder characterized by acute febrile inflammatory episodes comprising abdominal pain, arthritis, and urticaria. Progressive nerve deafness develops subsequently, and, after several years, the disease is complicated by multiorgan AA-type amyloidosis (i.e., amyloidosis derived from the inflammatory serum amyloid-associated protein) (MIM 191900) with renal involvement and end-stage renal failure. The mode of inheritance is autosomal dominant, but some sporadic cases have also been described. No specific laboratory findings have been reported. The genetic basis of MWS is unknown. Using a genomewide search strategy in three families, we identified the locus responsible for MWS, at chromosome 1q44. Our results indicate that the gene is located within a 13.9-cM region between markers D1S2811 and D1S2882, with a maximum two-point LOD score of 4. 66 (recombination fraction.00) at D1S2836 when full penetrance is assumed. Further identification of the specific gene that is responsible for MWS will therefore provide the first biological element for characterizing MWS, other than doing so on the basis of its variable clinical expression.
Mots-clé
Abdominal Pain/genetics
Amyloidosis/*genetics
Arthritis/genetics
Chromosome Mapping
Chromosomes, Human, Pair 1/*genetics
Deafness/*genetics
England
Female
France
Genes, Dominant/genetics
Humans
Inflammation/*genetics
Kidney Failure/*genetics
Likelihood Functions
Linkage (Genetics)/*genetics
Lod Score
Male
Microsatellite Repeats/genetics
Molecular Sequence Data
Pedigree
Penetrance
Syndrome
Urticaria/genetics
Pubmed
Web of science
Open Access
Oui
Création de la notice
25/01/2008 17:18
Dernière modification de la notice
20/08/2019 14:32