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Article

A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child.

Journal of molecular neuroscience : MN - 1 Nov 2015

Komara Makanko, Al-Shamsi Aisha M, Ben-Salem Salma, Ali Bassam R, Al-Gazali Lihadh

Abstract excerpt

Intellectual disability (ID) is a major public health burden on most societies with significant socioeconomic costs. It has been shown that genetic mutations in numerous genes are responsible for a proportion of hereditary forms of ID. NOP2/Sun transfer RNA (tRNA) methyltransferase family member 2 encoded by NSUN2 gene is a highly conserved protein and has been shown to cause autosomal recessive ID type 5 (MRT5)....

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Source

Identifiers

PMID: 26055038
DOI: 10.1007/s12031-015-0592-8

Genes

NSUN2
NOP2

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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A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child.PMID 26055038Read ↗

A novel variant in NSUN2 causes intellectual disability in a Chinese family.Semantic proximity Read ↗

A Novel Variant in NSUN2 Causes Intellectual Disability in a Chinese FamilySemantic proximity Read ↗

Mutations in NSUN2 cause autosomal-recessive intellectual disability.Semantic proximity Read ↗

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Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.Semantic proximity Read ↗

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