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Article

A novel variant in NSUN2 causes intellectual disability in a Chinese family.

BMC medical genomics - 20 Apr 2024

Yang Qi, Zhang Qiang, Qin Zailong, Yi Shang, Luo Jingsi

Abstract excerpt

NSUN2-intellectual disability syndrome, also known as intellectual disability type 5 (MRT5), is an autosomal recessive disorder that is characterized by intellectual disability (ID), postnatal growth retardation, dysmorphic facies, microcephaly, short stature, developmental delay, language impairment and other congenital abnormalities. The disease is caused by mutations in the NSUN2 gene, which encodes a tRNA...

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Identifiers

PMID: 38643142
DOI: 10.1186/s12920-024-01883-x
PMCID: PMC11032587

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