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Article

MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.

American journal of medical genetics. Part A - 1 Jan 2025

Kao Eric C, Mizerik Elizabeth A, Bacino Carlos A, Dai Hongzheng, Vossaert Liesbeth, Scott Daryl A

Abstract excerpt

Mediator complex subunit 12 (MED12) is required for the assembly of the kinase module of Mediator, a regulatory complex that controls the formation of the RNA polymerase II-mediated preinitiation complex. MED12-related disorders display unique gender-specific genotype-phenotype associations and include X-linked recessive Opitz-Kaveggia syndrome, Lujan-Fryns syndrome, Ohdo syndrome, and nonspecific intellectual...

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Source

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Identifiers

PMID: 39215511
DOI: 10.1002/ajmg.a.63868
PMCID: PMC11637953

Genes

MED12

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.

Related research

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MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.PMID 39215511Read ↗

MED12 related disorders.Semantic proximity Read ↗

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 -Related Developmental Disorders.Semantic proximity Read ↗

MED12 mutations in human diseases.Semantic proximity Read ↗

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.Semantic proximity Read ↗

Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.Semantic proximity Read ↗

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.Semantic proximity Read ↗

Genetic analysis of <i>de novo</i> variants reveals sex differences in complex and isolated congenital diaphragmatic hernia and indicates <i>MYRF</i> as a candidate geneSemantic proximity Read ↗

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.Semantic proximity Read ↗

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?Semantic proximity Read ↗

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.Semantic proximity Read ↗

Review of the phenotypic spectrum associated with haploinsufficiency of MYRFSemantic proximity Read ↗

A Novel Intronic Variant in MED12 Associated with a Predominantly Hepatobiliary Phenotype Suggestive of Hardikar Syndrome: A Case Report and Literature Review.Semantic proximity Read ↗

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