|
Dermatofibrosis lenticularis disseminata
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
LEMD3 gene mutations are related to OPK and Buschke-Ollendorff Syndrome, a genetic condition in which an association between MEL, OPK and skin lesions is observed.
|
31129707 |
2019 |
|
Dermatofibrosis lenticularis disseminata
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in LEMD3 are pathogenic for Buschke-Ollendorff syndrome.
|
29023873 |
2017 |
|
Dermatofibrosis lenticularis disseminata
|
0.800 |
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 |
|
Dermatofibrosis lenticularis disseminata
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Buschke-Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropoelastin expression.
|
20732851 |
2011 |
|
Dermatofibrosis lenticularis disseminata
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study shows the wide phenotypic variation in BOS and increases the repertory of mutations described to date in LEMD3.
|
20678097 |
2011 |
|
Dermatofibrosis lenticularis disseminata
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Absence of LEMD3 mutation in the exons and splice sites of a family with BOS suggests that there is genetic heterogeneity for this disorder.
|
20083694 |
2010 |
|
Dermatofibrosis lenticularis disseminata
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our results further expand the LEMD3 mutation repertoire, corroborate the extreme interfamilial and intrafamilial clinical variability of LEMD3 mutations, and underline the lack of a clear phenotype-genotype correlation in BOS.
|
19438932 |
2009 |
|
Dermatofibrosis lenticularis disseminata
|
0.800 |
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 |
|
Dermatofibrosis lenticularis disseminata
|
0.800 |
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 |
|
Dermatofibrosis lenticularis disseminata
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To further explore the allelic heterogeneity within the group of LEMD3-related disorders, we have screened a larger series of patients including 5 probands with osteopoikilosis or Buschke-Ollendorff syndrome (BOS), 2 families with the co-occurrence of melorheostosis and BOS, and 12 unrelated patients with isolated melorheostosis.
|
16470551 |
2006 |
|
Dermatofibrosis lenticularis disseminata
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.
|
16470551 |
2006 |
|
Dermatofibrosis lenticularis disseminata
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
A somatic mutation in the second allele of LEMD3 could not be identified in fibroblasts from affected skin of an individual with BOS and an individual with melorheostosis.
|
15489854 |
2004 |
|
Dermatofibrosis lenticularis disseminata
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A somatic mutation in the second allele of LEMD3 could not be identified in fibroblasts from affected skin of an individual with BOS and an individual with melorheostosis.
|
15489854 |
2004 |
|
Dermatofibrosis lenticularis disseminata
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A somatic mutation in the second allele of LEMD3 could not be identified in fibroblasts from affected skin of an individual with BOS and an individual with melorheostosis.
|
15489854 |
2004 |
|
Dermatofibrosis lenticularis disseminata
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Melorheostosis in a patient with familial osteopoikilosis.
|
9295073 |
1997 |
|
Dermatofibrosis lenticularis disseminata
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Dermatofibrosis lenticularis disseminata
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |