Abstract
A Chinese male infant with arthrogryposis multiplex congenita (AMC), ventricular and atrial septal defects, and Werdnig-Hoffmann disease (WHD) had deletions of the telomeric copy of the survival motor neuron (SMN(T)) and neuronal apoptosis inhibitory protein genes. Children with AMC or congenital heart disease, or both, and motor neuron disease should undergo testing for SMN(T) deletion. This rare association further illustrates the variable phenotypic expressions of WHD.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Arthrogryposis / complications
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Arthrogryposis / genetics
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Cyclic AMP Response Element-Binding Protein
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Gene Deletion
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Heart Septal Defects, Atrial / complications
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Heart Septal Defects, Atrial / genetics
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Heart Septal Defects, Ventricular / complications
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Heart Septal Defects, Ventricular / genetics
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Humans
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Infant, Newborn
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Male
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Nerve Tissue Proteins / genetics*
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Neuronal Apoptosis-Inhibitory Protein
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RNA-Binding Proteins
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SMN Complex Proteins
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Spinal Muscular Atrophies of Childhood / complications
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Spinal Muscular Atrophies of Childhood / genetics*
Substances
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Cyclic AMP Response Element-Binding Protein
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NAIP protein, human
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Nerve Tissue Proteins
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Neuronal Apoptosis-Inhibitory Protein
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RNA-Binding Proteins
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SMN Complex Proteins