Gene: FKTN
Alternate names for this Gene: CMD1X|FCMD|LGMD2M|LGMDR13|MDDGA4|MDDGB4|MDDGC4
Gene Summary: The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene.
Gene is located in Chromosome: 9
Location in Chromosome : 9q31.2
Description of this Gene: fukutin
Type of Gene: protein-coding
rs119464998 in
FKTN gene and
Fukuyama Type Congenital Muscular Dystrophy
PMID 21078917 2010 Consensus statement on standard of care for congenital muscular dystrophies.
PMID 19396839 2009 Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement.
PMID 20620061 2010 Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea.
PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
PMID 17597323 2008 Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy.
PMID 18177472 2008 Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.
PMID 22958903 2012 Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
PMID 11165248 2001 Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.
PMID 14627679 2003 A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
PMID 26809617 2016 Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.
rs746763506 in
FKTN gene and
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M
PMID 11165248 2001 Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.
PMID 14627679 2003 A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
rs746763506 in
FKTN gene and
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
PMID 14627679 2003 A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
PMID 11165248 2001 Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.
rs119463990 in
FKTN gene and
Walker-Warburg congenital muscular dystrophy
PMID 25814170 2015 Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients.
PMID 19179078 2009 Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.
PMID 9690476 1998 An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy.
PMID 20961758 2011 Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
PMID 11165248 2001 Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.
PMID 22275357 2012 Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration.
PMID 19396839 2009 Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement.
PMID 17597323 2008 Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy.
PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
PMID 18177472 2008 Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.
PMID 27065010 2016 Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.
PMID 19266496 2009 Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.
PMID 18752264 2008 Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.