One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birth

J Child Neurol. 2014 Jun;29(6):799-802. doi: 10.1177/0883073813477203. Epub 2013 Feb 28.

Abstract

A family with 2 siblings with severe spinal muscular atrophy with respiratory distress 1 (SMARD1) was genetically proved to be caused by mutations in IGHMBP2 gene. Both patients developed progressive muscular weakness and respiratory distress and died before 6 months of age. One novel deletion, c.780delG;p.(Gln260Hisfs*24), inherited from the father and a nonsense mutation, c.1488C>A;p.(Cys496*), inherited from the mother were detected. An attempt was made to correlate the genetic-clinical data available in the literature. The clinical case presented in this study might be considered as the most severe form of spinal muscular atrophy respiratory distress 1 reported so far, presumably because of the total absence of IGHMBP2 enzyme activity.

Keywords: IGHMBP2; SMARD; mutation; spinal muscular atrophy.

Publication types

  • Case Reports

MeSH terms

  • DNA-Binding Proteins / genetics*
  • Family Health
  • Humans
  • Infant, Newborn
  • Muscular Atrophy, Spinal / genetics*
  • Mutation / genetics*
  • Neurologic Examination
  • Radiography, Thoracic
  • Respiratory Distress Syndrome, Newborn / genetics*
  • Thorax / pathology
  • Transcription Factors / genetics*

Substances

  • DNA-Binding Proteins
  • IGHMBP2 protein, human
  • Transcription Factors

Supplementary concepts

  • Spinal muscular atrophy with respiratory distress 1