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

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.

European journal of human genetics : EJHG - 1 May 2010

Hackett Anna, Tarpey Patrick S, Licata Andrea, Cox James, Whibley Annabel, Boyle Jackie, Rogers Carolyn, Grigg John, Partington Michael, Stevenson Roger E, Tolmie John, Yates John Rw, Turner Gillian, Wilson Meredith, Futreal Andrew P, Corbett Mark, Shaw Marie, Gecz Jozef, Raymond F Lucy, Stratton Michael R, Schwartz Charles E, Abidi Fatima E

Abstract excerpt

Mutations of the calcium/calmodulin-dependent serine protein kinase (CASK) gene have recently been associated with X-linked mental retardation (XLMR) with microcephaly, optic atrophy and brainstem and cerebellar hypoplasia, as well as with an X-linked syndrome having some FG-like features. Our gr...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, X
Share to Facies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, X-Linked

Share to Guanylate Kinases

Share to Microcephaly

Share to Nystagmus, Congenital

Share to X Chromosome Inactivation

Share to X-Linked Intellectual Disability

Source

Open in PubMed Open full text

Identifiers

PMID: 20029458
DOI: 10.1038/ejhg.2009.220
PMCID: PMC2987321

Genes

CASK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20029458-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.PMID 20029458Read ↗

Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.Semantic proximity Read ↗

Identification of three novel mutations in the FRMD7 gene for X-linked idiopathic congenital nystagmus.Semantic proximity Read ↗

Phenotypic and molecular insights into CASK-related disorders in males.Semantic proximity Read ↗

A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.Semantic proximity Read ↗

Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein.Semantic proximity Read ↗

Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders.Semantic proximity Read ↗

A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.Semantic proximity Read ↗

Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.Semantic proximity Read ↗

A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: A Case Report and Literature ReviewSemantic proximity Read ↗

Novel CASK mutations in cases with syndromic microcephaly.Semantic proximity Read ↗

Phenotypic spectrum associated with CASK loss-of-function mutations.Semantic proximity Read ↗

A review of the molecular genetics of congenital Idiopathic Nystagmus (CIN).Semantic proximity Read ↗

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