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CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.

Hala Nasser1,2, Liza Vera3, Monique Elmaleh-Bergès4

  • 1Département de Génétique, APHP, Hopital Robert Debré, 75019 Paris, France.

Journal of Medical Genetics
|February 5, 2020
PubMed
Summary

Mutations in CDK5RAP2 cause microcephaly and also affect eye, ear, and brain development. Early neurosensory follow-up is crucial for children with these genetic conditions.

Keywords:
CDK5RAP2MCPHintellectual disabilityprimary microcephalyretinal alterationsensorineural hearing loss

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Area of Science:

  • Genetics
  • Developmental Biology
  • Neurology

Background:

  • Primary hereditary microcephaly (MCPH) is a group of genetic disorders impacting brain development and size.
  • Over 25 genes are linked to MCPH, but clinical differentiation between forms remains difficult.

Purpose of the Study:

  • To investigate the clinical spectrum of MCPH3 caused by mutations in the CDK5RAP2 gene.
  • To understand the broader developmental roles of CDK5RAP2 beyond brain size regulation.

Main Methods:

  • Detailed clinical, MRI, psychomotor, neurosensory, and cognitive assessments were performed on 7 patients with novel CDK5RAP2 mutations.
  • Immunohistochemical analysis identified CDK5RAP2 protein in human fetal cochlear tissues.

Main Results:

  • All patients presented with microcephaly, neurosensory defects, and microphthalmia with ocular anomalies.
  • Cochlear abnormalities and progressive deafness were observed in 4 patients.
  • Hypothalamic anomalies, including interhypothalamic adhesions, were present in 5 patients.

Conclusions:

  • CDK5RAP2 is essential for brain size, ocular development, cochlear development, and hypothalamic midline separation.
  • CDK5RAP2 mutations are associated with deafness and holoprosencephaly spectrum disorders.
  • Neurosensory follow-up is recommended to manage comorbidities and optimize educational outcomes.