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 Baumbach, Tara Cox Matise, Adam Schiavi, Frank Greenberg, Eric Hoffman

Research output: Contribution to journalArticle

Abstract

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, θ =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. / 1995 Oxford University Press.

Original languageEnglish (US)
Pages (from-to)1213-1216
Number of pages4
JournalHuman Molecular Genetics
Volume4
Issue number7
DOIs
StatePublished - Jul 1995
Externally publishedYes

Fingerprint

Arthrogryposis
Human Chromosomes
X Chromosome
Chromosomes
Chromosome
Genes
Gene
Anterior Horn Cells
Lod Score
X-Linked Genes
Motor Neuron Disease
Muscle Hypotonia
Chromosome Mapping
Contracture
Linkage Analysis
Neurons
Concordance
Cell Death
Disorder
Neuron

ASJC Scopus subject areas

  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)
  • Genetics

Cite this

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. / Kobayashi, Hisashi; Baumbach, Lisa; Matise, Tara Cox; Schiavi, Adam; Greenberg, Frank; Hoffman, Eric.

In: Human Molecular Genetics, Vol. 4, No. 7, 07.1995, p. 1213-1216.

Research output: Contribution to journalArticle

Kobayashi, Hisashi ; Baumbach, Lisa ; Matise, Tara Cox ; Schiavi, Adam ; Greenberg, Frank ; Hoffman, Eric. / 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. In: Human Molecular Genetics. 1995 ; Vol. 4, No. 7. pp. 1213-1216.
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