TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.

doi:10.1093/brain/awae175

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.

Brain : a journal of neurology - 3 Dec 2024

Duy Phan Q, Jux Bettina, Zhao Shujuan, Mekbib Kedous Y, Dennis Evan, Dong Weilai, Nelson-Williams Carol, Mehta Neel H, Shohfi John P, Juusola Jane, Allington Garrett, Smith Hannah, Marlin Sandrine, Belhous Kahina, Monteleone Berrin, Schaefer G Bradley, Pisarska Margareta D, Vásquez Jaime, Estrada-Veras Juvianee I, Keren Boris, Mignot Cyril, Flore Leigh A, Palafoll Irene V, Alper Seth L, Lifton Richard P, Haider Shozeb, Moreno-De-Luca Andres, Jin Sheng Chih, Kolanus Waldemar, Kahle Kristopher T

Abstract excerpt

Congenital hydrocephalus, characterized by cerebral ventriculomegaly, is one of the most common reasons for paediatric brain surgery. Recent studies have implicated lin-41 (lineage variant 41)/TRIM71 (tripartite motif 71) as a candidate congenital hydrocephalus risk gene; however, TRIM71 variants have not been systematically examined in a large patient cohort or conclusively linked with an OMIM syndrome. Through...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Cohort Studies

Share to Cross-Sectional Studies

Share to Hydrocephalus

Share to Infant

Share to Neurodevelopmental Disorders

Share to Tripartite Motif Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 38833623
DOI: 10.1093/brain/awae175
PMCID: PMC11629693

Genes

TRIM71
CDKN1A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.PMID 38833623Read ↗

Gain-of-function mutations in Trim71 linked to congenital hydrocephalus.Semantic proximity Read ↗

Different congenital hydrocephalus-associated mutations in Trim71 impair stem cell differentiation via distinct gain-of-function mechanisms.Semantic proximity Read ↗

A congenital hydrocephalus-causing mutation in Trim71 induces stem cell defects via inhibiting Lsd1 mRNA translation.Semantic proximity Read ↗

A congenital hydrocephalus causing mutation in Trim71 results in stem cell differentiation defects through inhibiting <i>Lsd1</i> mRNA translationSemantic proximity Read ↗

Genetics and Molecular Pathogenesis of Human HydrocephalusSemantic proximity Read ↗

De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.Semantic proximity Read ↗

The RNA-binding protein TRIM71 is essential for hearing in humans and mice and regulates the timing of auditory sensory organ developmentSemantic proximity Read ↗

Trim71/lin-41 Links an Ancient miRNA Pathway to Human Congenital HydrocephalusSemantic proximity Read ↗

Developmental genetic determinants of the human cerebrospinal fluid-ventricular system.Semantic proximity Read ↗

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.Semantic proximity Read ↗

A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family.Semantic proximity Read ↗

De Novo TRIO Missense Variants Disrupt Ras-GEF Domains and Cause Congenital Ventriculomegaly and Hydrocephalus.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.