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Allelic heterogeneity of SMARD1 at the IGHMBP2 locus. 2004

I Maystadt, and M Zarhrate, and P Landrieu, and O Boespflug-Tanguy, and S Sukno, and P Collignon, and J Melki, and C Verellen-Dumoulin, and A Munnich, and L Viollet
INSERM U393 and Department of Genetics, Hospital Necker Enfants Malades, Paris, France.

Spinal Muscular Atrophy with Respiratory Distress (SMARD) is an autosomal recessive disorder characterized by neurogenic muscular atrophy due to progressive anterior horn cell degeneration and early life-threatening respiratory failure ascribed to diaphragmatic dysfunction. SMARD is clinically and genetically heterogeneous. SMARD type 1 is characterized by onset of respiratory failure within the first weeks of life and has been ascribed to mutations in the immunoglobulin mu-binding protein 2 (IGHMBP2) gene on chromosome 11q13-q21. We report here the identification of nine novel IGHMBP2 mutations in five SMARD1 patients, including seven missense [ c.587A>G (p.Gln196Arg), c.647C>T (p.Pro216Leu), c.752T>C (p.Leu251Pro), c.1693G>A (p.Asp565Asn), c.1730T>C (p.Leu577Pro), c.1807C>T (p.Arg603Cys), c.1909C>T (p.Arg637Cys)] and two nonsense mutations [ c.1488C>A (p.Cys496X), c.2368C>T (p.Arg790X)]. Interestingly, 7 of 9 mutations occurred at highly conserved residues of the putative DNA helicase domain. The identification of novel IGHMBP2 variants will hopefully help diagnosing SMARD1 and contribute to a better functional characterization of IGHMBP2 gene product.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000483 Alleles Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. Allelomorphs,Allele,Allelomorph
D014897 Spinal Muscular Atrophies of Childhood A group of recessive inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3) Infantile Spinal Muscular Atrophy,Juvenile Spinal Muscular Atrophy,Kugelberg-Welander Disease,Muscular Atrophy, Spinal, Infantile,Spinal Muscular Atrophy, Infantile,Spinal Muscular Atrophy, Juvenile,Werdnig-Hoffmann Disease,HMN (Hereditary Motor Neuropathy) Proximal Type I,Kugelberg-Welander Syndrome,Muscular Atrophy, Infantile,Muscular Atrophy, Juvenile,Muscular Atrophy, Spinal, Infantile Chronic Form,Muscular Atrophy, Spinal, Intermediate Type,Muscular Atrophy, Spinal, Type I,Muscular Atrophy, Spinal, Type II,Muscular Atrophy, Spinal, Type III,Proximal Hereditary Motor Neuropathy Type I,SMA, Infantile Acute Form,Spinal Muscular Atrophy 1,Spinal Muscular Atrophy Type 2,Spinal Muscular Atrophy Type I,Spinal Muscular Atrophy Type II,Spinal Muscular Atrophy Type III,Spinal Muscular Atrophy, Mild Childhood and Adolescent Form,Spinal Muscular Atrophy, Type 3,Spinal Muscular Atrophy, Type I,Spinal Muscular Atrophy, Type II,Spinal Muscular Atrophy, Type III,Type I Spinal Muscular Atrophy,Type II Spinal Muscular Atrophy,Type III Spinal Muscular Atrophy,Werdnig Hoffman Disease,Infantile Muscular Atrophy,Juvenile Muscular Atrophy,Kugelberg Welander Disease,Kugelberg Welander Syndrome,Werdnig Hoffmann Disease

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