title: A gene for arthrogryposis multiplex congenita neuropathic type is linked to D5S394 on chromosome 5qter.
abstract: Arthrogryposis multiplex congenita (AMC) is a heterogeneous-symptom complex characterized by joint contractures at birth that involve more than one part of the body. We performed a genetic-linkage study of one large Israeli-Arab inbred kindred showing autosomal recessive inheritance of AMC neuropathic type that had been recently investigated by our group. After analysis of approximately 80% of the genome, D5S1456, which showed no increased homozygosity, showed increased genotype sharing in affected individuals. Linkage analysis in all family members revealed linkage between AMC and D5S1456 on chromosome 5qter (maximum LOD score 5.3 at recombination fraction .001). Analysis of additional markers in this region places the gene causing AMC in this family between D5S1456 and D5S498.
authors.affiliation: Medical Genetics and Felsenstein Medical Research Center, Rabin Medical Center, Beilison Campus, Petah Tiqva, Israel. mshohat@ccsg.tau.ac.il
authors.forename: M
authors.initials: M
authors.lastname: Shohat
authors.forename: R
authors.initials: R
authors.lastname: Lotan
authors.forename: N
authors.initials: N
authors.lastname: Magal
authors.forename: T
authors.initials: T
authors.lastname: Shohat
authors.forename: N
authors.initials: N
authors.lastname: Fischel-Ghodsian
authors.forename: J I
authors.initials: JI
authors.lastname: Rotter
authors.forename: L
authors.initials: L
authors.lastname: Jaber
mesh_terms: D018912:Arabs; D001176:Arthrogryposis / Q000208:ethnology / Q000235:genetics*; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D007557:Israel; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree; D012984:Software