DNMBP gene


Gene (OMIM No.)
Function of gene/protein
  • Protein: dynamin binding protein, a member of the guanine nucleotide exchange factor family
  • Regulates cell junction configuration
  • Binds to dynamin through its many binding sites to link dynamin to actin regulatory proteins
Clinical phenotype
(OMIM phenotype no.)
  • Autosomal recessive
Ocular features
Systemic features
  • No extraocular features have been reported
Key investigations
  • B-scan USS to measure axial length to document microphthalmia and detect any posterior segment abnormalities
  • Electrophysiology
  • TORCH screen
  • Assessment with a pediatrician if suspicious of systemic involvement
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (cataract)
  • Whole exome sequencing
  • Whole genome sequencing
Therapies under research
  • None at present
Further information

Jump to top


  1.  Ansar M, Chung HL, Taylor RL, et al. Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts. Am J Hum Genet. 2018;103(4):568‐578
  2.  Otani T, Ichii T, Aono S, Takeichi M. Cdc42 GEF Tuba regulates the junctional configuration of simple epithelial cells. J Cell Biol. 2006;175(1):135‐146
  3.  Salazar MA, Kwiatkowski AV, Pellegrini L, et al. Tuba, a novel protein containing bin/amphiphysin/Rvs and Dbl homology domains, links dynamin to regulation of the actin cytoskeleton. J Biol Chem. 2003;278(49):49031‐49043

Jump to top

Updated on November 30, 2020
Was this article helpful?