|
Osteopoikilosis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Osteopoikilosis With Germline LEMD3 Mutation Mimicking Bone Metastases in a Girl With a Concurrent Secreting Mixed Germ Cell Tumor.
|
30951020 |
2020 |
|
Osteopoikilosis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Erratum: Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis.
|
30430792 |
2019 |
|
Osteopoikilosis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The molecular analyses of this case series corroborate the available data in the medical literature, indicating that LEMD3 germline mutations are not a major cause of isolated MEL and reporting five further cases of OPK caused by LEMD3 germline mutations.
|
31129707 |
2019 |
|
Osteopoikilosis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous loss-of-function mutations in MAN1 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
|
30321401 |
2018 |
|
Osteopoikilosis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants in the LEMD3 have been identified as the cause of osteopoikilosis.
|
28840995 |
2017 |
|
Osteopoikilosis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Osteopoikilosis (OPK) is the autosomal dominant skeletal dysplasia that features symmetrically distributed punctate osteosclerosis due to heterozygous loss-of-function mutation within LEMD3.
|
28434888 |
2017 |
|
Osteopoikilosis (disorder)
|
0.500 |
Biomarker
|
disease |
BEFREE |
Comparing the clinical and molecular data of our patients with those previously reported we performed a detailed genotype-phenotype correlation confirming the association between growth retardation and osteopoikilosis when the rearrangement includes both LEMD3 and HMGA2 genes.
|
28407409 |
2017 |
|
Osteopoikilosis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Although typically benign, we describe a novel LEMD3 splice site mutation (IVS12 + 1delG) in a 13-year-old boy with Buschke-Ollendorff syndrome presenting with severe skeletal deformities, polyostotic melorheostosis, and osteopoikilosis.
|
26135202 |
2016 |
|
Osteopoikilosis (disorder)
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature.
|
26694706 |
2016 |
|
Osteopoikilosis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We investigated LEMD3 gene in a three-generation family from China, with six patients affected with osteopoikilosis.
|
26694706 |
2016 |
|
Osteopoikilosis (disorder)
|
0.500 |
Biomarker
|
disease |
BEFREE |
Neither case had osteopoikilosis despite both being deleted for LEMD3.
|
21267005 |
2011 |
|
Osteopoikilosis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently it has been demonstrated that the heterozygous loss of function in LEMD3 can result in osteopoikilosis, BOS, and melorheostosis.
|
20678097 |
2011 |
|
Osteopoikilosis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here we describe a familial case of osteopoikilosis in which a novel heterozygous LEMD3 mutation coincides with a novel mutation in EXT1, a gene involved in aetiology of multiple exostosis syndrome.
|
20618940 |
2010 |
|
Osteopoikilosis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
LEMD3 haploinsufficiency and point mutations have been previously associated with osteopoikilosis but radiographs of our patient at the age of 16 years did not reveal any hint for osteopoikilosis lesions.
|
19762329 |
2010 |
|
Osteopoikilosis (disorder)
|
0.500 |
Biomarker
|
disease |
BEFREE |
We conclude that the heterozygous Lemd3 gene-trapped mouse is not a good model to study osteopoikilosis and the Buschke-Ollendorff syndrome.
|
19862465 |
2009 |
|
Osteopoikilosis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the 12q14.4 microdeletion syndrome can occur with or without deletion of LEMD3 gene; in LEMD3-intact cases, the phenotype includes primordial short stature and failure to thrive with moderate developmental delay, but osteopoikilosis is absent.
|
19277063 |
2009 |
|
Osteopoikilosis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis.
|
19438932 |
2009 |
|
Osteopoikilosis (disorder)
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis.
|
17622481 |
2007 |
|
Osteopoikilosis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In 2004, others discovered that heterozygous, loss-of-function, germline mutations in the LEMD3 gene (LEMD3 or MAN1) cause both osteopoikilosis (OPK) and Buschke-Ollendorff syndrome (BOS).
|
17087626 |
2007 |
|
Osteopoikilosis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The LEMD3 mutation reported was clearly the cause of osteopoikilosis in the two families but its relationship to melorheostosis in one of the family members is still unclear.
|
17622481 |
2007 |
|
Osteopoikilosis (disorder)
|
0.500 |
Biomarker
|
disease |
BEFREE |
It contains 13 RefSeq genes, including LEMD3, which was previously shown to be the causal gene for osteopoikilosis.
|
17220210 |
2007 |
|
Osteopoikilosis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The additional presence of osteopoikilosis lesions in these patients seemed to distinguish them from the group of sporadic melorheostosis patients where no germline LEMD3 mutation was identified.
|
16470551 |
2006 |
|
Osteopoikilosis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
|
15489854 |
2004 |
|
Osteopoikilosis (disorder)
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|