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Variants in the WDR45 Gene Within the OPA-2 Locus Associate With Isolated X-Linked Optic Atrophy.

Inbal Gazit1,2, Idan Hecht1,2,3, Chen Weiner2,3

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Two families with X-linked optic atrophy were found to have novel pathogenic variants in the WDR45 gene. These findings link WDR45 gene mutations to isolated X-linked optic atrophy.

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Area of Science:

  • Genetics
  • Ophthalmology
  • Neurology

Background:

  • X-linked optic atrophy is a rare inherited condition affecting vision.
  • The OPA2 locus on the X chromosome is known to be associated with this condition.

Purpose of the Study:

  • To investigate the genetic basis of X-linked optic atrophy in two families.
  • To identify novel pathogenic variants in genes associated with optic atrophy.

Main Methods:

  • Whole-exome sequencing (WES) and bioinformatic analysis were performed.
  • Sanger sequencing and segregation analysis confirmed the identified variants.
  • Clinical and molecular data from affected individuals and family members were collected.

Main Results:

  • Two families of Jewish Ashkenazi descent with early-onset bilateral optic atrophy were studied.
  • Novel pathogenic variants in the WDR45 gene (NM_001029896.2:c.107C>A and NM_001029896.2:c.236-1G>T) were identified.
  • These variants segregated with the disease in an X-linked pattern, affecting males and manifesting mildly in carrier females.

Conclusions:

  • Novel pathogenic variants in the WDR45 gene are associated with isolated X-linked optic atrophy.
  • The WDR45 gene, located at the OPA2 locus, plays a crucial role in optic nerve development and function.
  • These findings expand the spectrum of WDR45-related disorders and provide insights into the genetic etiology of X-linked optic atrophy.