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© 1995 Oxford University Press

RESEARCH-ARTICLE

A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3–q11.2

Hisashi Kobayashi, Lisa Baumbach1,*, Tara Cox Matise2, Adam Schiavi1,3, Frank Greenberg4,5 and Eric Hoffman

Department of Molecular Genetics and Biochemistry, Human Genetics arid Pediatrics, University of Pittsburgh School of Medicine Pittsburgh, PA 15261 1Department of Pediatrics, University of Miami School of Medicine Miami, FL 33101 2Department of Psychiatry, Columbia University New York, NY 10032 3Department of Biochemistry and Molecular Biology, University of Miami School of Medicine Miami, FL 33101 4Department of Molecular and Human Genetics, Baylor College of Medicine Houston, TX 77030 5Diagnostic Development Branch, National Center for Human Genome Research, National Institutes of Health Bethesda, MD 20892, USA

*To whom correspondence should be addressed

Received February 23, 1995; Revised April 10, 1995; Accepted April 10, 1995

X-linked arthrogryposis Type I (X-linked infantile spinal muscular atrophy) is a rare disorder showing hypotonia, areflexia, and multiple congenital contractures (arthrogryposis) associated with loss of anterior horn cells and death in infancy. We have studied an X-linked arthrogryposis family using highly polymorphic mlcrosateiiite markers throughout the X chromosome. Meiotic breakpoint analysis (concordance analysis) based on shared regions of the founder X chromosome was successful in localizing the X-linked arthrogryposis gene to Xp11.3–q11.2. in this region, the highest two-point lod score was found with DXS991 (Zmax=2.63, {theta} =0.00). in multipoint linkage analysis covering the entire X chromosome, only the region defined by MAOB and DXS991 showed positive iod scores and all other regions showed negative led scores. These data establish the first gene mapping assignment of an X-linked lethal form of human lower motor neuron disease.


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