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Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.

Muhammad Ansar1, Hyung-Lok Chung2, Rachel L Taylor3

  • 1Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland.

American Journal of Human Genetics
|October 6, 2018
PubMed
Summary
This summary is machine-generated.

Genetic variants in DNMBP cause infantile cataracts. This discovery identifies a new gene linked to early-onset vision impairment in children, aiding future genetic diagnostics.

Keywords:
DNMBPDrosophilaERGbristlescataractcorneaeye developmentphotoreceptorspigment cellsstill life

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Area of Science:

  • Genetics
  • Ophthalmology
  • Cell Biology

Background:

  • Infantile cataracts are a diverse group of disorders with many genetic causes.
  • Numerous genes responsible for autosomal-recessive infantile cataracts are yet to be identified.

Purpose of the Study:

  • To identify novel genetic causes of autosomal-recessive infantile cataracts.
  • To investigate the role of the DNMBP gene in human eye development and cataract formation.

Main Methods:

  • Whole exome sequencing was performed on three consanguineous families with infantile cataracts.
  • RNA interference (RNAi) was used to study the Drosophila ortholog of DNMBP (still life).
  • E-cadherin localization and tight junction morphology were analyzed in human epithelial cells.

Main Results:

  • Homozygous loss-of-function variants in DNMBP were identified in all affected individuals across the three families.
  • Knockdown of the Drosophila ortholog (sif) disrupted lens-secreting cell development and E-cadherin localization.
  • DNMBP was shown to regulate tight junction shape and E-cadherin assembly in human epithelial cells.

Conclusions:

  • Loss-of-function variants in DNMBP are a cause of infantile-onset cataracts in humans.
  • DNMBP plays a crucial role in maintaining ocular tissue integrity and cell adhesion during development.