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

Deleterious mutation in <i>GPR88</i> is associated with chorea, speech delay, and learning disabilities

10 Mar 2016

Abstract excerpt

OBJECTIVE: To identify the underlying molecular basis of a familial developmental disorder characterized by chorea, marked speech delay, and learning difficulties in 4 sisters from a consanguineous family. METHODS: Whole-exome analysis of DNA of the 2 older patients followed by Sanger sequencing of the mutated exon in all family members. RESULTS: A homozygous deleterious mutation, p.C291X, was identified in the...

Read the complete abstract on PubMed

Topics

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

Share to Genomics and Rare Diseases
Share to Parkinson's Disease Mechanisms and Treatments
Share to Receptor Mechanisms and Signaling

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 27123486
DOI: 10.1212/nxg.0000000000000064

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deleterious mutation in <i>GPR88</i> is associated with chorea, speech delay, and learning disabilitiesPMID 27123486Read ↗

A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria.Semantic proximity Read ↗

GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant.Semantic proximity Read ↗

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.Semantic proximity Read ↗

A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.Semantic proximity Read ↗

Rare GPR37L1 variants reveal potential roles in anxiety and migraine disordersSemantic proximity Read ↗

Rare GPR37L1 Variants Reveal Potential Association between GPR37L1 and Disorders of Anxiety and Migraine.Semantic proximity Read ↗

Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.Semantic proximity Read ↗

Pathogenic variants in <i>TMEM184B</i> cause a neurodevelopmental syndrome associated with alteration of metabolic signalingSemantic proximity Read ↗

Targeted exome sequencing identified two novel truncation mutations in GPR98 causing Usher syndrome.Semantic proximity Read ↗

Pathogenic <i>MAPK8IP3</i> variants drive distinct motor and behavioral phenotypes in humans and miceSemantic proximity Read ↗

Clinical and molecular characterization of de novo loss of function variants in HNRNPU.Semantic proximity Read ↗

A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia.Semantic proximity Read ↗

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