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Article

Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.

Human molecular genetics - 1 Aug 2014

Bernkopf Marie, Webersinke Gerald, Tongsook Chanakan, Koyani Chintan N, Rafiq Muhammad A, Ayaz Muhammad, Müller Doris, Enzinger Christian, Aslam Muhammad, Naeem Farooq, Schmidt Kurt, Gruber Karl, Speicher Michael R, Malle Ernst, Macheroux Peter, Ayub Muhammad, Vincent John B, Windpassinger Christian, Duba Hans-Christoph

Abstract excerpt

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...

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Share to Chromosomes, Human, Pair 17
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

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Source

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Identifiers

PMID: 24626631
DOI: 10.1093/hmg/ddu115
PMCID: PMC4082365

Genes

METTL23

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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