Gene: POMT1

Alternate names for this Gene: LGMD2K|LGMDR11|MDDGA1|MDDGB1|MDDGC1|RT

Gene Summary: The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.13

Description of this Gene: protein O-mannosyltransferase 1

Type of Gene: protein-coding

rs587777819 in POMT1 gene and Abnormality of brain morphology PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

rs119462987 in POMT1 gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K PMID 16717220 2006 Expanding the clinical spectrum of POMT1 phenotype.

PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

PMID 17869517 2008 Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.

PMID 20816175 2010 POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.

PMID 22549409 2012 Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

PMID 16575835 2006 The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

PMID 12369018 2002 Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.

PMID 15637732 2005 Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.

PMID 24491487 2014 A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.

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.

PMID 17559086 2007 Molecular heterogeneity in fetal forms of type II lissencephaly.

PMID 28116189 2016 A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome.

PMID 24304607 2013 Detection limit of intragenic deletions with targeted array comparative genomic hybridization.

PMID 22323514 2012 Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

rs119462987 in POMT1 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 PMID 20816175 2010 POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.

PMID 16717220 2006 Expanding the clinical spectrum of POMT1 phenotype.

PMID 22549409 2012 Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

PMID 17869517 2008 Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.

PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

PMID 15637732 2005 Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.

PMID 16575835 2006 The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

PMID 12369018 2002 Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.

PMID 24491487 2014 A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.

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.

PMID 17559086 2007 Molecular heterogeneity in fetal forms of type II lissencephaly.

PMID 28116189 2016 A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome.

PMID 22323514 2012 Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

PMID 24304607 2013 Detection limit of intragenic deletions with targeted array comparative genomic hybridization.

rs1289335417 in POMT1 gene and Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 PMID 15637732 2005 Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.

PMID 16575835 2006 The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

PMID 15037715 2004 POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.

PMID 12369018 2002 Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.

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

rs119462987 in POMT1 gene and Walker-Warburg congenital muscular dystrophy PMID 16717220 2006 Expanding the clinical spectrum of POMT1 phenotype.

PMID 20816175 2010 POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.

PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

PMID 17869517 2008 Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.

PMID 22549409 2012 Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

PMID 15637732 2005 Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.

PMID 16575835 2006 The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

PMID 12369018 2002 Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.

PMID 24491487 2014 Compound heterozygous mutations in POMT1 were identified including a previously reported nonsense mutation (c.2167dupG; p.Asp723Glyfs*8) associated with Walker-Warburg syndrome and a novel missense mutation in a highly conserved region of the protein O-mannosyltransferase 1 protein (c.1958C>T; p.Pro653Leu).

PMID 17559086 2007 Molecular heterogeneity in fetal forms of type II lissencephaly.

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.

PMID 28116189 2016 A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome.

PMID 22323514 2012 Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

PMID 24304607 2013 Detection limit of intragenic deletions with targeted array comparative genomic hybridization.

PMID 24491487 2014 A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.