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Chiari malformation type I: what information from the genetics?

Valeria Capra1, Michele Iacomino1,2, Andrea Accogli1

  • 1UOC Neurochirurgia, IRCCS Istituto Giannina Gaslini, v. G. Gaslini 5, 16147, Genoa, Italy.

Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|August 7, 2019
PubMed
Summary

Genetic factors likely contribute to Chiari malformation type I (CMI), a condition causing cerebellar tonsil herniation. However, specific genes remain unidentified, highlighting the need for further research into CMI genetics.

Keywords:
Autosomal dominant/recessive inheritanceChiari type I malformation (CMI)HindbrainPosterior cranial fossa (PCF)Syringomyelia (SM)Tonsillar ectopiaWhole exome sequencing (WES)

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Chiari malformation type I (CMI) involves cerebellar tonsil herniation through the foramen magnum, causing neurological issues.
  • It's often linked to an underdeveloped occipital bone and a small posterior cranial fossa.
  • The exact cause of CMI is not fully understood, but a genetic component is suspected.

Purpose of the Study:

  • To review evidence supporting a genetic contribution to Chiari malformation type I.
  • To explore the current understanding of the genetic basis of CMI.

Main Methods:

  • Analysis of animal models and human studies.
  • Inclusion of whole genome linkage analysis, case-control association studies, and expression studies.
  • Incorporation of recent findings from whole exome sequencing.

Main Results:

  • Evidence suggests a genetic role in CMI, but no major causative genes have been identified.
  • The genetic etiology of CMI remains largely unknown.
  • Clinical presentation variability in CMI patients indicates underlying genetic heterogeneity.

Conclusions:

  • Identifying genes involved in CMI etiology is crucial for understanding its pathology.
  • Discovering predisposing genes could lead to improved diagnostic tests, prognosis, and patient management.
  • Further genetic research is essential for advancing CMI care.