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A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy

Nobuhiko Okamoto1, Yasuhisa Toribe, Tohru Nakajima

  • 1Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodo-cho, Izumi, Osaka 594-1101, Japan. YB9N-OKMT@asahi-net.or.jp

Journal of Human Genetics
|October 12, 2002
PubMed

Insights

This study reports the first case of 1p36 deletion syndrome associated with congenital fiber type disproportion myopathy in a Japanese girl. This finding suggests a potential link between 1p36 deletions and muscle development disorders.

Area of Science:

  • Genetics and Molecular Biology
  • Neurology and Developmental Pediatrics

Background:

  • Chromosome 1p36 deletion syndrome is a genetic disorder characterized by hypotonia, developmental delays, and craniofacial abnormalities.
  • Muscle hypotonia and delayed motor development are consistent features observed in individuals with 1p36 deletion syndrome.

Observation:

  • A 4-year-old Japanese girl diagnosed with 1p36 deletion syndrome presented with congenital fiber type disproportion (CFTD) myopathy.
  • Muscle pathology revealed CFTD, a condition not previously reported in association with 1p36 deletion syndrome.

Findings:

  • This case represents the first documented instance of 1p36 deletion syndrome co-occurring with CFTD myopathy.
  • Fluorescent in situ hybridization confirmed the deletion of the human SKI gene in the affected patient.
  • Ski proto-oncogene knockout mice exhibit phenotypes similar to some features seen in 1p36 deletion syndrome patients.

Implications:

  • The association suggests that a locus for CFTD may be located on chromosome 1p36.
  • Genes within the 1p36 region, including the SKI proto-oncogene, are potentially implicated in the muscle hypotonia and delayed motor development characteristic of this syndrome.
  • Further research into the 1p36 region could elucidate the genetic mechanisms underlying muscle hypotonia in 1p36 deletion syndrome.

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