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IGHMBP2 mutation associated with organ-specific autonomic dysfunction

Pedro J Tomaselli1, Alejandro Horga2, Alexander M Rossor2

  • 1MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, Queen Square, London WC1N 3AR, UK; Department of Neuromuscular Disorders, Clinical Hospital of Ribeirão Preto, University of São Paulo, Ribeirão Preto, SP 14640-900, Brazil.

Neuromuscular Disorders : NMD
|November 3, 2018
PubMed

Insights

IGHMBP2 gene mutations cause severe neuromuscular disorders. This case highlights a novel mutation leading to progressive muscle weakness, respiratory failure, and gastrointestinal autonomic dysfunction.

Area of Science:

  • Genetics and Molecular Biology
  • Neurology
  • Rare Diseases

Background:

  • Biallelic mutations in the IGHMBP2 gene are linked to distinct neuromuscular disorders, including spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth disease type 2S (CMT2S).
  • Understanding the full spectrum of IGHMBP2-related phenotypes is crucial for accurate diagnosis and management.

Observation:

  • A patient presented with infantile-onset progressive muscle weakness and wasting in all limbs.
  • Respiratory involvement emerged at age 9, necessitating continuous non-invasive ventilation, alongside severe gastrointestinal autonomic dysfunction.
  • Late-stage neurophysiological studies showed absent sensory/motor responses and severe denervation in proximal upper limb muscles.

Findings:

  • Targeted sequencing identified a novel homozygous missense variant (c.1325A>G; p.Tyr442Cys) in the IGHMBP2 gene.
  • Sanger sequencing and co-segregation analysis confirmed the variant's novelty and parental carrier status.

Implications:

  • This case expands the known clinical spectrum of IGHMBP2-related disorders.
  • It underscores the potential for severe peripheral neuropathy and significant gastrointestinal autonomic dysfunction, possibly requiring parenteral nutrition, in patients with IGHMBP2 mutations.

Keywords:
CMTIGHMBP2 geneNext generation sequencingSMARD1Target multigene panel

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