|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
Mutations in POMT1 have been identified in Walker-Warburg syndrome and in patients with limb-girdle muscular dystrophy and mental retardation (LGMD2K).
|
16717220 |
2006 |
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We performed an immunohistochemical and electron microscopy study of a muscle biopsy from a patient affected by WWS carrying a homozygous frameshift mutation in O-mannosyltransferase 1 gene (POMT1). alpha-Dystroglycan glycosylated epitope was not detected in muscle fibers and intramuscular peripheral nerves.
|
12757935 |
2003 |
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We further demonstrate that a homozygous splice site mutation of a recently identified WWS patient results in POMT1 p.del77-93.
|
20065251 |
2010 |
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Sequencing of the POMT1 gene revealed mutations in 6 of the 30 unrelated patients with WWS.
|
12369018 |
2002 |
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons.
|
19639522 |
2009 |
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Within this group mutations in the protein O-mannosyltransferase genes (POMT1 and POMT2) are known to cause a spectrum of CMD disorders including the Walker-Warburg Syndrome with severe brain and ocular malformations, and the limb girdle muscular dystrophy with and without mental retardation.
|
24556424 |
2014 |
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A MEB phenotype with frontal cortical dysplasia and pons abnormalities was found in two patients with POMT1 and in one with POMT2 mutations, while a WWS phenotype was only found in a case with mutations in POMT1.
|
18513969 |
2008 |
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
We recommend POMT1 analysis in WWS cases associated with cleft lip and palate when considering which gene to sequence first.
|
18640039 |
2008 |
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Further analysis of our patient's exome dataset revealed heterozygosity for a splice-site mutation in POMT1 (IVS4+1G>T), encoding the protein O-mannosyltransferase, a gene implicated in Walker-Warburg syndrome.
|
25308318 |
2015 |
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
However, this is the first report of a retrotransposon insertion in the POMT1 gene associated with WWS.
|
17079174 |
2007 |
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In addition, we report different compound heterozygous POMT1 mutations in four unrelated families that result in a less severe phenotype than WWS, characterized by CMD with calf hypertrophy, microcephaly, and mental retardation.
|
16575835 |
2006 |
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
|
15792865 |
2005 |
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Walker-Warburg Syndrome (WWS) and muscle-eye-brain disease (MEB) are caused by mutations in two genes involved in O-mannosylation, POMT1 and POMGnT1, respectively.
|
12925572 |
2003 |
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In the present study, mutations in POMT1 genes observed in patients with WWS were duplicated by site-directed mutagenesis.
|
15522202 |
2004 |
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
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).
|
24491487 |
2014 |
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
From these data we show that POMT1 is an uncommon cause of WWS, the incidence of coding region mutations in this population of WWS being less than 7%.
|
15637732 |
2005 |
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We report five Chinese patients with POMT1 mutations: one had a typical clinical manifestation of WWS, and the other four were diagnosed with congenital muscular dystrophy with mental retardation of varying severity.
|
27193224 |
2016 |
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The authors report on a patient with WWS and a novel POMT1 mutation.
|
15037715 |
2004 |
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
The presence of an occipital encephalocele in a WWS patient might point to POMT1 as causative gene within the different genes associated with WWS.
|
31311558 |
2019 |
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These results confirm that WWS is a genetically heterogeneous condition and suggest that disruption of the alpha-dystroglycan/laminin-alpha 2 axis in the basal lamina may play a role in the degeneration of muscle fibres in WWS-also in cases not due to POMT1 defects.
|
12788039 |
2003 |
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
In this group, protein-O-linked mannose-beta1,2-N-acetylglucosaminyltransferase and protein-O-mannosyltransferase 1 are considered to be responsible for muscle-eye-brain disease and Walker-Warburg syndrome, respectively, by glycosylation of alpha-dystroglycan.
|
15351017 |
2004 |
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in POMT1 have been identified in Walker-Warburg syndrome and in patients with limb-girdle muscular dystrophy and mental retardation (LGMD2K).
|
16717220 |
2006 |
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We report a male patient with WWS resulting from a homozygous nonsense mutation (R514X) in the POMT1 gene.
|
17161965 |
2007 |
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.
|
15383666 |
2004 |
|
Muscle eye brain disease
|
0.510 |
GeneticVariation
|
disease |
BEFREE |
Walker-Warburg Syndrome (WWS) and muscle-eye-brain disease (MEB) are caused by mutations in two genes involved in O-mannosylation, POMT1 and POMGnT1, respectively.
|
12925572 |
2003 |