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Article

Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.

American journal of human genetics - 12 Nov 2010

Kaufmann Rami, Straussberg Rachel, Mandel Hanna, Fattal-Valevski Aviva, Ben-Zeev Bruria, Naamati Adi, Shaag Avraham, Zenvirt Shamir, Konen Osnat, Mimouni-Bloch Aviva, Dobyns William B, Edvardson Simon, Pines Ophry, Elpeleg Orly

Abstract excerpt

Primary microcephaly of postnatal onset is a feature of many neurological disorders, mostly associated with mental retardation, seizures, and spasticity, and it typically carries a grave prognosis. Five infants from four unrelated families of Caucasus Jewish origin presented soon after birth with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20950787
DOI: 10.1016/j.ajhg.2010.09.016
PMCID: PMC2978946

Genes

MED17

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20950787-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.PMID 20950787Read ↗

Distinct but milder phenotypes with choreiform movements in siblings with compound heterozygous mutations in the transcription preinitiation mediator complex subunit 17 (MED17).Semantic proximity Read ↗

Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families.Semantic proximity Read ↗

An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay.Semantic proximity Read ↗

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

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.Semantic proximity Read ↗

MED20 biallelic pathogenic variants cause a neurodevelopmental disorder altering both transcription activity and Transcription-Coupled Repair pathwaySemantic proximity Read ↗

Identification of a Novel Mutation in CTCF in a Family with MRD21Semantic proximity Read ↗

A de novo frameshift variant in MED13 gene in a patient with autism spectrum disorder and magnetic resonance imaging abnormalities mimicking tuberous sclerosis.Semantic proximity Read ↗

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.Semantic proximity Read ↗

The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*).Semantic proximity Read ↗

Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.Semantic proximity Read ↗

Understanding the molecular basis of the mutation in the RNA polymerase III subunit Rpc10 (R41W)- associated with hypomyelinating leukodystrophy in the yeast homolog Rpc11.Semantic proximity Read ↗

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