A Gene for Arthrogryposis Multiplex Congenita Neuropathic Type Is Linked to D5S394 on Chromosome 5qter

Shohat, Mordechai
Lotan, Rona
Magal, Nurit
Shohat, Tamar
Fischel-Ghodsian, Nathan
Rotter, Jerome I.
Jaber, Lutfi

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Publication date

November 1997

DOI

10.1086/301598

Publisher

The American Society of Human Genetics. Published by Elsevier Inc.

Abstract

SummaryArthrogryposis 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 ∼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 f...