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Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy

Marc R Del Bigio1, Albert E Chudley, Harvey B Sarnat

  • 1Department of Pathology, University of Manitoba, Winnipeg, Canada.

Annals of Neurology
|February 22, 2011
PubMed

Insights

A genetic mutation in the CRYAB gene causes fatal infantile hypertonic muscular dystrophy in Canadian aboriginal infants. This severe condition results from homozygosity for a hypomorphic allele, leading to myofibrillar myopathy.

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • A rare, recessively inherited fatal infantile hypertonic muscular dystrophy affects Canadian aboriginal infants.
  • Affected infants exhibit progressive muscle stiffness and severe respiratory insufficiency, often leading to death within the first year of life.

Purpose of the Study:

  • To identify the genetic basis of this severe infantile muscular dystrophy.

Main Methods:

  • Histochemical, immunocytochemical, electron microscopy, and molecular genetic analyses were performed on 12 patients.
  • Mutation screening of the CRYAB gene was conducted in DNA samples from 8 patients.

Main Results:

  • Studies suggested myofibrillar myopathy (MFM).
  • Absence of alpha B-crystallin (αBC) expression was noted, with specific antibody staining revealing abnormalities.
  • A homozygous deletion (c.60delC) in the CRYAB gene, leading to a premature stop codon (p.Ser21AlafsX24), was identified in all affected patients.
  • Heterozygous carriers were identified in unaffected parents.

Conclusions:

  • The homozygous c.60delC mutation in the CRYAB gene is the genetic cause of this fatal infantile hypertonic muscular dystrophy in Canadian aboriginals.
  • Unlike typical dominant MFMs, this disease presents with recessive inheritance due to a hypomorphic allele.
  • The severe phenotype in patients is attributed to homozygosity for this markedly hypomorphic allele, while limited expression rescues parental phenotype.
Abstract

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