A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract

Jozef Hertecant, Makanko Komara, Aslam Nagi, Jehan Suleiman, Lihadh Al-Gazali, Bassam R. Ali

Research output: Contribution to journalArticlepeer-review

15 Citations (Scopus)

Abstract

Mutations in DYNC1H1, the gene encoding the largest cytoplasmic dynein, have been associated with a wide spectrum of neurodegenerative disorders. In this study, we describe a child in whom a novel de novo likely pathogenic variant in the motor domain of DYCN1H1 was identified through whole exome sequencing. The affected child presented with severe neurological symptoms and more extensive cortical malformations compared to previously reported cases with mutations in this gene, including diffuse pachygyria-lissencephaly and bilateral symmetric subcortical gray matter heterotopia. A more distinct aspect of the phenotype in this child is the presence of cataract in infancy. So far, only acquired bilateral cataract in adulthood has been described in this disorder in a patient with a much milder neurological phenotype. These findings could extend the phenotype associated with defective DYNC1H1 and suggest a possible important role in human ocular development.

Original languageEnglish
Pages (from-to)124-127
Number of pages4
JournalMeta Gene
Volume9
DOIs
Publication statusPublished - Sep 1 2016

Keywords

  • Cataract
  • Cortical malformation
  • DYNC1H1
  • Intellectual disability

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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