Discover Community Create You

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

Article

Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype.

American journal of medical genetics. Part A - 1 Mar 2017

Costain Gregory, Shugar Andrea, Krishnan Pradeep, Mahmutoglu Saadet, Laughlin Suzanne, Kannu Peter

Abstract excerpt

The PRUNE1 gene encodes a member of the phosphoesterases (DHH) protein superfamily that is highly expressed in the human fetal brain and involved in the regulation of cell migration. Homozygous or compound heterozygous PRUNE1 mutations were recently identified in five individuals with brain malformations from four families. We present a case of a 2-year-old male with a complex neurological phenotype and...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Chromosome Mapping

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Facies

Share to Genetic Association Studies

Share to High-Throughput Nucleotide Sequencing

Share to Homozygote

Share to Magnetic Resonance Imaging

Source

Identifiers

PMID: 28211990
DOI: 10.1002/ajmg.a.38066

Genes

PRUNE1
DHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype.PMID 28211990Read ↗

Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies In A Consanguineous Iranian Family Is Associated With A Novel Homozygous Start Loss Variant In The PRUNE1 GeneSemantic proximity Read ↗

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.Semantic proximity Read ↗

Functional modeling of NMIHBA-causing <i>PRUNE1</i> variants reveals a requirement for its exopolyphosphatase activitySemantic proximity Read ↗

NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.Semantic proximity Read ↗

An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.Semantic proximity Read ↗

Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in EXOSC1 gene: A case report.Semantic proximity Read ↗

Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature.Semantic proximity Read ↗

MRI Characterization of Structural Brain Abnormalities in NGLY1 DeficiencySemantic proximity Read ↗

Spinal motor neuron involvement in a patient with homozygous PRUNE mutation.Semantic proximity Read ↗

Novel compound heterozygous missense variants in TOE1 gene associated with pontocerebellar hypoplasia type 7.Semantic proximity Read ↗

The diagnostic utility of exome-based carrier screening in families with a positive family history.Semantic proximity Read ↗

Exome sequencing of affected duos and trios uncovers PRUNE2 as a novel prostate cancer predisposition gene.Semantic proximity Read ↗

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