Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly

Eur J Med Genet. 2023 May;66(5):104733. doi: 10.1016/j.ejmg.2023.104733. Epub 2023 Feb 25.

Abstract

Autosomal recessive primary microcephaly type 3 (MCPH3) caused by pathogenic variations in CDK5RAP2, is characterized by sensorineural hearing loss, abnormality of skin pigmentation, ocular defects and severe microcephaly associated with neurodevelopmental delay. In this study, we expand the phenotype of MCPH3 as we describe a 10-year-old girl with a biallelic exonic frameshift variant in CDK5RAP2 displaying previously unreported features usually associated with Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II (MOPDII). We further describe the clinical phenotype of this form of centrosomal-based primary microcephaly and emphasize the importance of skeletal defect screening in affected individuals.

Keywords: Autosomal recessive microcephaly type 3; CDK5RAP2; Centrosome; MOPDII; Meier-Gorlin syndrome.

Publication types

  • Case Reports

MeSH terms

  • Cell Cycle Proteins / genetics
  • Dwarfism* / diagnosis
  • Dwarfism* / genetics
  • Female
  • Fetal Growth Retardation / diagnosis
  • Fetal Growth Retardation / genetics
  • Humans
  • Microcephaly* / pathology
  • Nerve Tissue Proteins
  • Osteochondrodysplasias* / diagnosis
  • Osteochondrodysplasias* / genetics

Substances

  • CDK5RAP2 protein, human
  • Nerve Tissue Proteins
  • Cell Cycle Proteins

Supplementary concepts

  • Microcephalic Osteodysplastic Primordial Dwarfism, Type II