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Case Reports
. 2020 Apr;182(4):785-791.
doi: 10.1002/ajmg.a.61503. Epub 2020 Feb 18.

Further delineation of METTL23-associated intellectual disability

Mohammed Almannai  1 , Osama Obaid  1 , Eissa Faqeih  1 , Ali Alasmari  1 , Manar M Samman  2 , Hailey Pinz  3   4 , Stephen R Braddock  3   4 , Fowzan S Alkuraya  5   6
Affiliations
Case Reports

Further delineation of METTL23-associated intellectual disability

Mohammed Almannai et al. Am J Med Genet A. 2020 Apr.

Abstract

METTL23 belongs to a family of methyltransferase like proteins (METTL) that transfer methyl group to various substrates. Recently, pathogenic homozygous variants in METTL23 were identified in patients from three families who presented with intellectual disability (ID) and variable dysmorphic features. In this report, we present unpublished phenotypic data from the original family as well as six new subjects from four families who also presented with mild to moderate ID and dysmorphic features, and were found to harbor four previously unpublished homozygous or compound heterozygous variants in METTL23. Our report further supports the role of this gene in autosomal recessive ID and emphasizes the mild but consistent facial features.

Keywords: METTL23; developmental delay; dysmorphic features; intellectual disability; methyltransferase.

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References

REFERENCES

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