DNMBP gene

Overview

Gene (OMIM No.)	DNMBP (#611282)
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.)	Cataract 48 (#618415)
Inheritance	Autosomal recessive
Ocular features	Congenital cataract Pendular nystagmus Exotropia Distorted/constricted pupils
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 diagnosis	Next generation sequencing Targeted gene panels (cataract) Whole exome sequencing Whole genome sequencing
Management	Ocular Management of congenital cataract
Therapies under research	None at present
Further information	OMIM

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
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
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

Updated on November 30, 2020

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