title: Alpha-catulin maps to the familial dysautonomia region on 9q31.
abstract: Familial dysautonomia is a severe autosomal-recessive neurodegenerative disease that primarily affects the Ashkenazi Jewish population. We present the mapping of alpha-catulin and show that it maps precisely to the familial dysautonomia candidate region on 9q31. Patient sequence analysis identified two new sequence variants, which show linkage disequilibrium with this disease. A G to A transition at nucleotide 423 in exon 3 is a silent base change that does not alter the Val residue at position 141. A G to C transversion at nucleotide 1579 changes the Glu at postion 527 to Gln. These base changes were analyzed in several patients, unaffected Ashkenazi Jewish controls, and non-Jewish controls. Because of the presence of these sequence variants in several unaffected individuals, alpha-catulin is unlikely to be the causative gene in this disease.
authors.affiliation: Department of Genetics, Hospital for Sick Children, University of Toronto, ON, Canada.
authors.forename: P C
authors.initials: PC
authors.lastname: Demacio
authors.forename: P N
authors.initials: PN
authors.lastname: Ray
mesh_terms: D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004402:Dysautonomia, Familial / Q000209:etiology / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D051178:alpha Catenin
chemical_list: C495274:CTNNAL1 protein, human; D003598:Cytoskeletal Proteins; D051178:alpha Catenin