Mental Retardation, Autosomal Recessive 44

Alternative Names

  • MRT44
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WHO-ICD-10 version:2010

Mental and behavioural disorders

Mental retardation

OMIM Number

615942

Mode of Inheritance

Autosomal recessive

Gene Map Locus

17q25.1

Description

MRT44 is a rare form of intellectual disability, caused by mutations in the METTL23 gene.  This condition has so far been reported in only three families worldwide.  In one of the families, the condition was characterized by the presence of intellectual disability and dysmorphic features.  The two other families did not report the presence of any dysmorphic features.  

Molecular Genetics

Mutations in the METTL23 gene are responsible for MRT44.  This gene codes for a protein, which has been speculated to function as a methyltransferase and as a transcriptional factor regulator.  Defects in the protein have been postulated to lead to abnormal methylation resulting in disrupted neuronal development via epigenetic and non-epigenetic pathways.  

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615942.1.1United Arab Emirates; ...MaleYesYes Intellectual disability, severe; Autist...NM_001080510.5:c.169_172delHomozygousAutosomal, RecessiveReiff et al. 2014 Large family, spread...
615942.1.2United Arab Emirates; ...MaleYesYes Intellectual disability, moderate; Gene...NM_001080510.5:c.169_172delHomozygousAutosomal, RecessiveReiff et al. 2014 Sibling of 615942.1....
615942.1.3United Arab Emirates; ...FemaleYesYes Intellectual disability, moderate; Musc...NM_001080510.5:c.169_172delHomozygousAutosomal, RecessiveReiff et al. 2014 Sibling of 615942.1....
615942.1.4United Arab Emirates; ...FemaleYesYes Intellectual disabilityNM_001080510.5:c.169_172delHomozygousAutosomal, RecessiveReiff et al. 2014 Second cousin of 615...
615942.1.5YemenFemaleYesYes Intellectual disabilityNM_001080510.5:c.169_172delHomozygousAutosomal, RecessiveReiff et al. 2014 Second cousin of 615...
615942.1.6YemenFemaleYesYes Intellectual disabilityNM_001080510.5:c.169_172delHomozygousAutosomal, RecessiveReiff et al. 2014 Second cousin of 615...
615942.1.7YemenFemaleYesYes Intellectual disabilityNM_001080510.5:c.169_172delHomozygousAutosomal, RecessiveReiff et al. 2014 Second cousin of 615...
615942.2United Arab EmiratesFemaleYesYes Global developmental delay; Hypotonia; L...NM_001080510.4:c.434_438delHomozygousAutosomal, RecessiveSaleh et al. 2021 Cousin with MPS3
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