title: Mutation of gene in spinal muscular atrophy respiratory distress type I.
abstract: Spinal muscular atrophy with respiratory distress type I (SMARD1, MIM #604 320) is an uncommon variant of infantile spinal muscular atrophy type I. Distinguishing features include diaphragmatic palsy, early-onset distal limb wasting, and contracture. This report describes a Chinese male with typical features of spinal muscular atrophy with respiratory distress type I. Direct sequencing of the causative gene, the immunoglobulin mu-binding protein 2 (IGHMBP2) gene, revealed the presence of a novel frameshift mutation caused by deletion of G in exon 13 and a single base pair substitution of G to A in exon 12 resulting in substitution of isoleucine for valine.
authors.affiliation: Division of Neurodevelopmental Paediatrics, Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong. vcnwong@hkucc.hku.hk
authors.forename: Virginia C N
authors.initials: VC
authors.lastname: Wong
authors.forename: Brian H Y
authors.initials: BH
authors.lastname: Chung
authors.forename: Susanna
authors.initials: S
authors.lastname: Li
authors.forename: Winnie
authors.initials: W
authors.lastname: Goh
authors.forename: So Lun
authors.initials: SL
authors.lastname: Lee
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D012131:Respiratory Insufficiency / Q000235:genetics*; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C489892:IGHMBP2 protein, human; D014157:Transcription Factors