A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.

Salvatore Mangano, Antonina Fontana, Rosaria Nardello, Annalisa Beninati, Vincenzo Antona

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)

Abstract

The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by head circumference of at least3 standard deviation below the mean.The MCPH exhibits genetic heterogeneity with thirteen loci (MCPH1-MCPH13) identified, and associated with variable degreeof intellectual disability. It has been reported that WDR62 is the second causative gene of autosomal recessive microcephaly(MCPH2) playing a significant role in spindle formation and the proliferation of neuronal progenitor cells.We report a clinical feature, electroclinical findings, and clinical course of a patient with a severe phenotype of MCPH2 includingmicrocephaly, refractory infantile spasms and intellectual disability. Genetic analysis detected a new homozygous splicing variantc.3335+1G>C in the WD repeat domain 62 (WDR62) gene, inherited from both heterozygous healthy parents, and an additionalnew heterozygous missense mutation c.1706T>A of G protein-coupled receptor 56 (GPR56) gene inherited from his healthy father. The study seeks to broaden the knowledge of clinical and electroclinical findings of MCPH2 and to contribute to a better characterization of the genotype-phenotype correlation.
Original languageEnglish
Pages (from-to)58-64
Number of pages7
JournalBRAIN & DEVELOPMENT
Volume40
Publication statusPublished - 2018

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

Fingerprint Dive into the research topics of 'A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.'. Together they form a unique fingerprint.

Cite this