Gene: FKRP

Alternate names for this Gene: FKTR|LGMD2I|LGMDR9|MDC1C|MDDGA5|MDDGB5|MDDGC5

Gene Summary: This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, cognitive disability, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.32

Description of this Gene: fukutin related protein

Type of Gene: protein-coding

rs11668878 in FKRP gene and Chronic Lymphocytic Leukemia PMID 20062064 2010 Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk.

rs4804000 in FKRP gene and Diabetes Mellitus, Insulin-Dependent PMID 21980299 2011 A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.

rs104894679 in FKRP gene and MUSCULAR DYSTROPHY, CONGENITAL, 1C PMID 12666124 2003 Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

PMID 12654965 2003 FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.

PMID 11592034 2001 Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

PMID 17336067 2007 A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.

PMID 14652796 2004 New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.

PMID 21078917 2010 Consensus statement on standard of care for congenital muscular dystrophies.

rs104894683 in FKRP gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I PMID 14647208 2003 Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.

PMID 12666124 2003 Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

PMID 11741828 2001 Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

PMID 23800702 2013 Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.

PMID 14523375 2004 Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.

PMID 30345904 2018 Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.

PMID 15060126 2004 FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.

PMID 20961759 2011 Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I.

PMID 19155270 2009 Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies.

PMID 16476814 2006 Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.

PMID 18639457 2008 Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study.

PMID 16634037 2006 High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.

PMID 24139536 2013 Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations.

PMID 19299310 2009 Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

PMID 27439679 2016 FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.

PMID 15574464 2005 Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.

PMID 19900540 2010 Mutations alter secretion of fukutin-related protein.

PMID 23591631 2013 Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.

PMID 11741828 2001 Patients with the C826A change had the clinically less severe LGMD2I phenotype, suggesting that this is a less disruptive FKRP mutation than those found in MDC1C.

PMID 15580560 2005 The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.

PMID 12666124 2003 Patients with LGMD2I shared a common mutation (C826A,Leu276Ileu) and their phenotypic severity was correlated with the second allelic mutation.

PMID 19955119 2010 Zebrafish models for human FKRP muscular dystrophies.

PMID 28454995 2017 A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.

PMID 14652796 2004 New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.

PMID 18671187 2008 Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations.

PMID 23894383 2013 Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.

PMID 23420653 2014 Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations.

PMID 16368217 2006 Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.

PMID 20623375 2010 Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.

PMID 27439679 2016 Interestingly, the c.545A>G mutation was found in eight of the nine LGMD2I patients as a founder mutation and this founder mutation in Chinese patients differs from the one seen in European patients.

PMID 25987458 2015 A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.

PMID 28629604 2017 Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy.

PMID 26320847 2016 First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy.

PMID 15833426 2005 Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.

PMID 26436962 2015 Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

PMID 12707425 2003 The phenotype of limb-girdle muscular dystrophy type 2I.

PMID 16344347 2005 Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.

PMID 18691338 2009 A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.

PMID 17446099 2007 Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I.

PMID 11592034 2001 Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

PMID 18160674 2008 Diagnosis and etiology of congenital muscular dystrophy.

rs104894684 in FKRP gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 PMID 15121789 2004 Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

rs28937900 in FKRP gene and Muscular Dystrophies, Limb-Girdle PMID 15580560 2005 A second LGMD locus, LGMD2I, was identified in chromosome region 19q13.3, and the causative mutation was identified as c.826C>A (L276I), a missense mutation in the FKRP gene.

PMID 19820980 2010 Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients.

PMID 25560911 2015 Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy.

PMID 17554798 2007 Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo.

PMID 15833432 2005 Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation.

PMID 19900540 2010 Mutations alter secretion of fukutin-related protein.

PMID 12666124 2003 Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

PMID 26833294 2016 An irish case of limb-girdle muscular dystrophy 2I with structural eye involvement.

PMID 11741828 2001 Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

PMID 15574464 2005 Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.

PMID 18593008 2006 LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 25048216 2014 Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene delivery.

PMID 22264518 2012 Cortical heterotopia in LGMD2I.

PMID 23576288 2013 Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I.

PMID 16634037 2006 High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.

PMID 26363967 2015 Significant response to immune therapies in a case of subacute necrotizing myopathy and FKRP mutations.

PMID 19835634 2009 Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.

PMID 24447024 2014 Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I.

PMID 26574668 2015 A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans.

PMID 23591631 2013 Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.

PMID 15060126 2004 FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.

rs11668878 in FKRP gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs104894680 in FKRP gene and Walker-Warburg congenital muscular dystrophy PMID 12707425 2003 The phenotype of limb-girdle muscular dystrophy type 2I.

PMID 14742276 2004 Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies.

PMID 12666124 2003 Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

PMID 11592034 2001 Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

PMID 24447024 2014 Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I.

PMID 15060126 2004 FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.

PMID 14647208 2003 Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.

PMID 15121789 2004 Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

PMID 16634037 2006 High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.

PMID 16476814 2006 Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.

PMID 18639457 2008 Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study.

PMID 17336067 2007 A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.

PMID 23800702 2013 Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.

PMID 17055682 2007 A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I.

PMID 15574464 2005 Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.

PMID 22908982 2012 Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.

PMID 14652796 2004 New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.

PMID 27363342 2017 Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.

PMID 28629604 2017 Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy.

PMID 15833426 2005 Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.

PMID 26320847 2016 First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy.

PMID 23591631 2013 Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.

PMID 11741828 2001 Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

PMID 21220724 2011 Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I.

PMID 23576288 2013 Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I.

PMID 15580560 2005 The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.

PMID 16786213 2006 Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance.

PMID 22981120 2012 A population-based study of autosomal-recessive disease-causing mutations in a founder population.

PMID 18060779 2008 Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy.

PMID 18671187 2008 Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations.

PMID 16368217 2006 Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.

PMID 19955119 2010 Zebrafish models for human FKRP muscular dystrophies.

PMID 23420653 2014 Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations.

PMID 23894383 2013 Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.

PMID 28931339 2018 Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients.

PMID 27439679 2016 FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.

PMID 27848944 2017 Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

PMID 26436962 2015 Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

PMID 17446099 2007 Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I.

PMID 18691338 2009 A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.

PMID 17113772 2006 Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I.