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

Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?

American journal of medical genetics. Part A - 1 Sept 2014

Poulton Cathryn J, Schot Rachel, Seufert Katja, Lequin Maarten H, Accogli Andrea, Annunzio Giuseppe D', Villard Laurent, Philip Nicole, de Coo René, Catsman-Berrevoets Coriene, Grasshoff Ute, Kattentidt-Mouravieva Anja, Calf Hans, de Vreugt-Gronloh Erika, van Unen Leontine, Verheijen Frans W, Galjart Niels, Morris-Rosendahl Deborah J, Mancini Grazia M S

Abstract excerpt

Mutations in WDR62 are associated with primary microcephaly; however, they have been reported with wide phenotypic variability. We report on six individuals with novel WDR62 mutations who illustrate this variability and describe three in greater detail. Of the three, one lacks neuromotor development and has severe pachygyria on MRI, another has only delayed speech and motor development and moderate...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Cell Cycle Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Magnetic Resonance Imaging

Share to Microtubule-Associated Proteins

Share to Nerve Tissue Proteins

Share to Pregnancy

Share to Tubulin

Source

Identifiers

PMID: 24842779
DOI: 10.1002/ajmg.a.36611

Genes

TBCD

Variants

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

Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?PMID 24842779Read ↗

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation.Semantic proximity Read ↗

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.Semantic proximity Read ↗

Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.Semantic proximity Read ↗

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene.Semantic proximity Read ↗

Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly.Semantic proximity Read ↗

A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.Semantic proximity Read ↗

WDR62 missense mutation in a consanguineous family with primary microcephaly.Semantic proximity Read ↗

Microcephaly-associated WDR62 mutations hamper Golgi apparatus-to-spindle pole shuttling in human neural progenitorsSemantic proximity Read ↗

The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical developmentSemantic proximity Read ↗

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.Semantic proximity Read ↗

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.Semantic proximity Read ↗

Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly.Semantic proximity Read ↗

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