AGK gene

Overview
Congenital cataracts
Additional information
References

Overview

Gene (OMIM No.)	AGK (#610345)
Function of gene/protein	Protein: Acylglycerol kinase An enzyme involved in mitochondrial ATP synthesis and the metabolism of cardiolipin and phospholipids Ubiquitously expressed in the mitochondria of a variety of tissues, with highest expression in the heart, kidney, muscle and brain Regulate cell growth
Clinical phenotype (OMIM phenotype no.)	Cataract 38, autosomal recessive (#614691) Sengers Syndrome (#212350) A type of mitochondrial DNA depletion syndrome also known as cardiomyopathic mitochondrial DNA depletion syndrome-10 (MTDPS10)
Inheritance	Autosomal recessive
Ocular features	Congenital cataracts Nystagmus
Systemic features	Cataract 38, autosomal recessive Isolated congenital cataract with no systemic features Sengers Syndrome Hypertrophic cardiomyopathy from birth leading to cardiac failure, which may cause early mortality if severe Skeletal myopathy causing muscular weakness and hypotonia, leading to delayed motor development Exercise intolerance Lactic acidosis associated with exercise Normal mental development
Key investigations	B-scan USS to measure axial length to document microphthalmia and detect any posterior segment abnormalities Electrophysiology TORCH screen MRI brain and orbit Echocardiogram and electrocardiogram Systemic assessment with a paediatrician and other relevant specialists
Molecular diagnosis	Next generation sequencing Targeted gene panels (cataract) Whole exome sequencing Whole genome sequencing
Management	Ocular Management of congenital cataract Systemic Multidisciplinary approach
Therapies under research	None at present
Further information	OMIM

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Additional information

Most pathogenic variants in AGK cause Sengers syndrome except a splice site mutation (c.424-3 C>G) which has been reported to cause isolated congenital cataract in three siblings from one consanguineous family.^[1]

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References

Aldahmesh MA, Khan AO, Mohamed JY, Alghamdi MH, Alkuraya FS. Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. Hum Mutat. 2012;33(6):960‐962
Calvo SE, Compton AG, Hershman SG, et al. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med. 2012;4(118):118ra10
Mayr JA, Haack TB, Graf E, et al. Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet. 2012;90(2):314‐320

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Updated on November 30, 2020

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