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Further delineation of the phenotype caused by biallelic variants in the WDR4 gene

A Trimouille1, E Lasseaux1, P Barat2

  • 1Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.

Clinical Genetics
|June 16, 2017
PubMed

Insights

Genetic variants in the WDR4 gene cause microcephalic primordial dwarfism. This study identifies new WDR4 variants in two sisters, expanding the understanding of this rare genetic disorder.

Area of Science:

  • Genetics
  • Molecular Biology
  • Endocrinology

Background:

  • Microcephalic primordial dwarfisms are rare Mendelian disorders.
  • These conditions involve severe growth retardation and microcephaly.
  • The WDR4 gene, involved in tRNA modification, was recently linked to this condition.

Purpose of the Study:

  • To investigate the role of WDR4 gene variants in microcephalic primordial dwarfism.
  • To describe the phenotype associated with compound heterozygous WDR4 variants.
  • To confirm WDR4 as a causative gene for this group of disorders.

Main Methods:

  • Genetic analysis of two affected sisters.
  • Phenotypic characterization including growth, head circumference, and hormonal evaluation.
  • Comparison with previously reported WDR4 variant cases.

Main Results:

  • Two sisters presented with compound heterozygous variants in the WDR4 gene.
  • Phenotype included severe microcephaly, intellectual deficiency, growth hormone deficiency, and hypogonadotropic hypogonadism.
  • The identified variants expand the known spectrum of WDR4-associated phenotypes.

Conclusions:

  • Biallelic WDR4 variants cause a specific phenotype characterized by severe growth retardation and microcephaly.
  • WDR4 is confirmed as a significant gene in microcephalic primordial dwarfism.
  • Further research into WDR4 function and its role in development is warranted.
Keywords:
WDR4exome sequencinggrowth retardationmicrocephaly

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