A novel METTL5 variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature review

Baqir S. and Smith L. C. 2006 Inhibitors of histone deacetylases and DNA methyltransferases alter imprinted gene regulation in embryonic stem cells. Cloning Stem Cells 8, 200–213.

Article  CAS  PubMed  Google Scholar 

Darvish H., Esmaeeli-Nieh S., Monajemi G. B., Mohseni M., Ghasemi-Firouzabadi S. and Abedini S. S. 2010 A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. J. Med. Genet. 47, 823–828.

Article  CAS  PubMed  Google Scholar 

Durkin M. S., Hasan Z. M. and Hasan K. Z. 1998 Prevalence and correlates of mental retardation among children in Karachi, Pakistan. Am. J. Epidemiol. 147, 281–288.

Article  CAS  PubMed  Google Scholar 

Hu H., Kahrizi K., Musante L., Fattahi Z., Herwig R., Hosseini M. et al. 2019 Genetics of intellectual disability in consanguineous families. Mol. Psychiat. 24, 1027–1039.

Article  CAS  Google Scholar 

Kashevarova A. A., Nazarenko L. P., Skryabin N. A., Nikitina T. V., Vasilyev S. A. and Tolmacheva E. N. 2018 A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability. Am. J. Med. Genet. A 176, 2395–2403.

Article  CAS  PubMed  Google Scholar 

Kelleher R. J. III, Govindarajan A. and Tonegawa S. 2004 Translational regulatory mechanisms in persistent forms of synaptic plasticity. Neuron 44, 59–73.

Article  CAS  PubMed  Google Scholar 

Kochinke K., Zweier C., Nijhof B., Fenckova M., Cizek P., Honti F. et al. 2016 Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules. Am. J. Hum. Genet. 98, 149–164.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kriek M., Knijnenburg J., White S. J., Rosenberg C., den Dunnen J. T., van Ommen G. J. et al. 2007 Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH. Am. J. Med. Genet. A 143a, 610–604.

Article  PubMed  Google Scholar 

Lewis B. P., Green R. E. and Brenner S. E. 2003 Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans. Proc. Natl. Acad. Sci. USA 100, 189–192.

Article  CAS  PubMed  Google Scholar 

Ma H., Wang X., Cai J., Dai Q., Natchiar S. K., Lv R. et al. 2019 N(6-)Methyladenosine methyltransferase ZCCHC4 mediates ribosomal RNA methylation. Nat. Chem. Biol. 15, 88–94.

Article  CAS  PubMed  Google Scholar 

Musante L. and Ropers H. H. 2014 Genetics of recessive cognitive disorders. Trends Genet. 30, 32–39.

Article  CAS  PubMed  Google Scholar 

Najmabadi H., Hu H., Garshasbi M., Zemojtel T., Abedini S. S., Chen W. et al. 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 478, 57–63.

Article  CAS  PubMed  Google Scholar 

Rafati M., Seyyedaboutorabi E., Ghadirzadeh M. R., Heshmati Y., Adibi H., Keihanidoust Z. et al. 2012 “Familial” versus “Sporadic” intellectual disability: contribution of common microdeletion and microduplication syndromes. Mol. Cytogenet. 5, 9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Richard E. M., Polla D. L., Assir M. Z., Contreras M., Shahzad M., Khan A. A. et al. 2019 Bi-allelic variants in METTL5 cause autosomal-recessive intellectual disability and microcephaly. Am. J. Hum. Genet. 105, 869–878.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Saadat M. 2007 Consanguineous marriages in Iranian folktales. Commun. Genet. 10, 38–40.

Google Scholar 

Sharma S. and Lafontaine D. L. J. 2015 “View from a bridge”: a new perspective on eukaryotic rRNA base modification. Trends Biochem. Sci. 40, 560–575.

Article  CAS  PubMed  Google Scholar 

Sutton M. A. and Schuman E. M. 2006 Dendritic protein synthesis, synaptic plasticity, and memory. Cell 127, 49–58.

Article  CAS  PubMed  Google Scholar 

Taoka M., Nobe Y., Yamaki Y., Sato K., Ishikawa H., Izumikawa K. et al. 2018 Landscape of the complete RNA chemical modifications in the human 80S ribosome. Nucleic Acids Res. 46, 9289–9298.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Torun D., Arslan M., Çavdarlı B., Akar H. and Cram D. S. 2022 Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome. Turk. J. Pediatr. 64, 956–963.

Article  PubMed  Google Scholar 

van Tran N., Ernst F. G. M., Hawley B. R., Zorbas C., Ulryck N., Hackert P., Bohnsack K. E., Bohnsack M. T., Jaffrey S. R., Graille M. and Lafontaine D. L. J. 2019 The human 18S rRNA m6A methyltransferase METTL5 is stabilized by TRMT112. Nucleic Acids Res. 47, 7719–7733.

Article  PubMed  PubMed Central  Google Scholar 

Vissers L. E., Gilissen C. and Veltman J. A. 2016 Genetic studies in intellectual disability and related disorders. Nat. Rev. Genet. 17, 9–18.

Article  CAS  PubMed  Google Scholar 

Weller M., Tanieri M., Pereira J. C., Almeida Edos S., Kok F. and Santos S. 2012 Consanguineous unions and the burden of disability: a population-based study in communities of Northeastern Brazil. Am. J. Hum. Biol. 24, 835–840.

Article  PubMed  Google Scholar 

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