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ABCB6 mutations cause ocular coloboma.

Lejin Wang1, Lejing Wang, Fei He

  • 1Department of Ophthalmology, Peking University Third Hospital, Beijing, China. wanglejin@hotmail.com

American Journal of Human Genetics
|January 10, 2012
PubMed
Summary

Mutations in the ABCB6 gene cause ocular coloboma, a developmental eye defect. This finding identifies a new genetic cause for this condition, impacting eye development.

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Area of Science:

  • Genetics
  • Ophthalmology
  • Developmental Biology

Background:

  • Ocular coloboma is a congenital eye defect resulting from incomplete optic fissure closure.
  • The genetic and clinical presentation of ocular coloboma is highly varied.
  • Previous research has not definitively identified the genetic basis for many ocular coloboma cases.

Purpose of the Study:

  • To identify the genetic cause of autosomal-dominant ocular coloboma in a Chinese family.
  • To investigate the role of the ABCB6 gene in ocular development and coloboma pathogenesis.
  • To validate ABCB6 as a causative gene for ocular coloboma.

Main Methods:

  • Positional cloning and genetic linkage analysis were used to identify mutations in a Chinese family.
  • Exome sequencing and mutation screening were performed on sporadic cases of coloboma and related disorders.
  • Immunostaining, RT-PCR, and morpholino knockdown in zebrafish were employed to study ABCB6 function and localization.

Main Results:

  • A novel mutation (Leu811Val) in the ABCB6 gene was identified in a family with autosomal-dominant ocular coloboma.
  • An additional mutation (A57T) in ABCB6 was found in three patients with microphthalmia with coloboma.
  • ABCB6 localizes to the endoplasmic reticulum and Golgi apparatus in retinal pigment epithelial cells.
  • ABCB6 is expressed in the human retina and zebrafish eyes and central nervous system.
  • Zebrafish knockdown of abcb6 recapitulated the coloboma phenotype, which was rescued by wild-type ABCB6 mRNA.

Conclusions:

  • Mutations in the ABCB6 gene are a cause of ocular coloboma.
  • ABCB6 plays a critical role in eye development.
  • These findings expand the genetic landscape of ocular coloboma and provide a molecular basis for the disorder.