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Bernkopf, M; Webersinke, G; Tongsook, C; Koyani, CN; Rafiq, MA; Ayaz, M; Müller, D; Enzinger, C; Aslam, M; Naeem, F; Schmidt, K; Gruber, K; Speicher, MR; Malle, E; Macheroux, P; Ayub, M; Vincent, JB; Windpassinger, C; Duba, HC.
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
Hum Mol Genet. 2014; 23(15):4015-4023 Doi: 10.1093/hmg/ddu115 [OPEN ACCESS]
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Leading authors Med Uni Graz: Windpassinger Christian
Co-authors Med Uni Graz: Enzinger Christian; Koyani Chintan Navinchandra; Malle Ernst; Speicher Michael
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Abstract:: We describe the characterization of a gene for mild nonsyndromic autosomal recessive intellectual disability (ID) in two unrelated families, one from Austria, the other from Pakistan. Genome-wide single nucleotide polymorphism microarray analysis enabled us to define a region of homozygosity by descent on chromosome 17q25. Whole-exome sequencing and analysis of this region in an affected individual from the Austrian family identified a 5 bp frameshifting deletion in the METTL23 gene. By means of Sanger sequencing of METTL23, a nonsense mutation was detected in a consanguineous ID family from Pakistan for which homozygosity-by-descent mapping had identified a region on 17q25. Both changes lead to truncation of the putative METTL23 protein, which disrupts the predicted catalytic domain and alters the cellular localization. 3D-modelling of the protein indicates that METTL23 is strongly predicted to function as an S-adenosyl-methionine (SAM)-dependent methyltransferase. Expression analysis of METTL23 indicated a strong association with heat shock proteins, which suggests that these may act as a putative substrate for methylation by METTL23. A number of methyltransferases have been described recently in association with ID. Disruption of METTL23 presented here supports the importance of methylation processes for intact neuronal function and brain development. © The Author 2014. Published by Oxford University Press.
Find related publications in this database (using NLM MeSH Indexing): Base Sequence -; Child -; Chromosomes, Human, Pair 17 -; Consanguinity -; Exome -; Female -; Genes, Recessive -; Homozygote -; Humans -; Intellectual Disability - genetics; Intellectual Disability - physiopathology; Male -; Methyltransferases - genetics; Models, Molecular -; Molecular Sequence Data -; Mutation -; Pedigree -