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Article

Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India.

Human mutation - 1 Jan 2014

Geetha Thenral S, Michealraj Kulandaimanuvel Antony, Kabra Madhulika, Kaur Gurjit, Juyal Ramesh C, Thelma B K

Abstract excerpt

We report a novel missense mutation (c.1040G>A, p.Arg347Gln) in MID2, which encodes ubiquitin ligase E3, as the likely cause of X-linked mental retardation in a large kindred. The mutation was observed in all affected and obligate carriers but not in any unaffected males of the family or in popul...

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Source

Identifiers

PMID: 24115387
DOI: 10.1002/humu.22453

Genes

MID2
MID1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24115387-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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