Mandibuloacral dysostosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
OCN is a major component of bone extracellular matrix and a marker of osteogenesis, whereas mutations in LMNA cause several genetic disorders called laminopathies, including mandibuloacral dysostosis (MAD) that manifests with low bone mass, severe bone deformities, and delayed closure of the cranial sutures.
|
29845577 |
2018 |
Mandibuloacral dysostosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The molecular defects associated with MAD are mutations in LMNA or ZMPSTE24 (FACE1) gene, causing type A or type B MAD, respectively.
|
29208544 |
2018 |
Mandibuloacral dysostosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Lamin A is a key component of the nuclear lamina produced through post-translational processing of its precursor known as prelamin A.LMNA mutations leading to farnesylated prelamin A accumulation are known to cause lipodystrophy, progeroid and developmental diseases, including Mandibuloacral dysplasia, a mild progeroid syndrome with partial lipodystrophy and altered bone turnover.
|
25324471 |
2014 |
Mandibuloacral dysostosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome.
|
22549407 |
2012 |
Mandibuloacral dysostosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Accordingly, mutations in the LMNA gene and functionally related genes have been described to cause HGPS (Hutchinson-Gilford progeria syndrome), MAD (mandibuloacral dysplasia) or RD (restrictive dermopathy).
|
22103512 |
2011 |
Mandibuloacral dysostosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We conclude that MAD associated with ZMPSTE24 mutations has a more severe phenotype than that associated with LMNA mutations--probably reflecting the greater retention of unprocessed farnesylated prelamin A in the nucleus, which is toxic to cells.
|
20550970 |
2010 |
Mandibuloacral dysostosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mandibuloacral dysplasia (MAD) is an autosomal recessive progeroid disorder associated with type A (partial) or B (generalized) lipodystrophy and is due to mutations in lamin A/C (LMNA) or zinc metalloproteinase (ZMPSTE24) genes.
|
20631028 |
2010 |
Mandibuloacral dysostosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by hypoplasia of the mandible and clavicles, acro-osteolysis, and lipodystrophy due to mutations in LMNA or ZMPSTE24.
|
20814950 |
2010 |
Mandibuloacral dysostosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hutchinson-Gilford progeria syndrome (HGPS) and mandibuloacral dysplasia are well-recognized allelic autosomal dominant and recessive progeroid disorders, respectively, due to mutations in lamin A/C (LMNA) gene.
|
19875478 |
2009 |
Mandibuloacral dysostosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in lamin A/C (LMNA) and zinc metalloprotease (ZMPSTE24), involved in post-translational processing of prelamin A to mature lamin A, have been identified in MAD kindreds.
|
18435794 |
2008 |
Mandibuloacral dysostosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
This case extends the clinical spectrum of MAD and further expands the phenotypic range of lamin A/C associated diseases.
|
18348272 |
2008 |
Mandibuloacral dysostosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype.
|
17848409 |
2007 |
Mandibuloacral dysostosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
The associated mutant gene products include 1) nuclear lamin A in FPLD type 2 and MAD type A; 2) nuclear lamin B2 in APL; 3) nuclear hormone receptor peroxisome proliferator-activated receptor gamma in FPLD type 3; 4) lipid biosynthetic enzyme 1-acylglycerol-3-phosphate O-acyltransferase 2 in CGL type 1; 5) integral endoplasmic reticulum membrane protein seipin in CGL type 2; and 6) metalloproteinase ZMPSTE24 in MAD type B.
|
17374881 |
2007 |
Mandibuloacral dysostosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The S573L homozygous LMNA mutation is associated with a novel phenotype of arthropathy, tendinous calcifications, and progeroid features distinct from the acroosteolysis previously reported in patients with mandibuloacral dysplasia caused by LMNA or ZMPSTE24 mutations.
|
16278265 |
2006 |
Mandibuloacral dysostosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two genetic loci are known for MAD: lamin A/C (LMNA), encoding structural nuclear lamina proteins, and zinc metalloproteinase (ZMPSTE24), a membrane-bound endoprotease involved in post-translational proteolytic cleavage of carboxy terminal residues of prelamin A to form mature lamin A.
|
17152860 |
2006 |
Mandibuloacral dysostosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The secondary laminopathies are due to mutations in ZMPSTE24 gene which encodes for a zinc metalloproteinase involved in processing of prelamin A into mature lamin A and cause mandibuloacral dysplasia and restrictive dermopathy.
|
16364671 |
2006 |
Mandibuloacral dysostosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our objective was to carry out mutational analysis of LMNA in additional patients with MAD and type A lipodystrophy.
|
15998779 |
2005 |
Mandibuloacral dysostosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Besides LMNA gene, other as yet unmapped loci could be linked to MAD.
|
12788894 |
2003 |