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Article

A missense mutation in CASK causes FG syndrome in an Italian family.

American journal of human genetics - 1 Feb 2009

Piluso Giulio, D'Amico Francesca, Saccone Valentina, Bismuto Ettore, Rotundo Ida Luisa, Di Domenico Marina, Aurino Stefania, Schwartz Charles E, Neri Giovanni, Nigro Vincenzo

Abstract excerpt

First described in 1974, FG syndrome (FGS) is an X-linked multiple congenital anomaly/mental retardation (MCA/MR) disorder, characterized by high clinical variability and genetic heterogeneity. Five loci (FGS1-5) have so far been linked to this phenotype on the X chromosome, but only one gene, ME...

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Source

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Identifiers

PMID: 19200522
DOI: 10.1016/j.ajhg.2008.12.018
PMCID: PMC2668001

Genes

CASK
MED12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19200522-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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A missense mutation in CASK causes FG syndrome in an Italian family.PMID 19200522Read ↗

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

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

Dissecting CASK: Novel splice site variant associated with male MICPCH phenotype.Semantic proximity Read ↗

A Novel Loss-of-function Pathogenic Missense Mutation in CASK Gene Causes Mental Retardation and Microcephaly with Pontine and Cerebellar HypoplasiaSemantic proximity Read ↗

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

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

Sex-specific genotype-phenotype landscape and prevalence of <i>CASK</i> -related disorderSemantic proximity Read ↗

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