|
ZMPSTE24
|
Mandibuloacral dysostosis
|
0.100 |
GeneticVariation |
BEFREE |
Here the case of a boy affected with mandibuloacral dysplasia and compound heterozygous mutations in ZMPSTE24 is presented.
|
30548811 |
2019 |
|
ZMPSTE24
|
Mandibuloacral dysostosis
|
0.100 |
GeneticVariation |
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 |
|
ZMPSTE24
|
Mandibuloacral dysostosis
|
0.100 |
GeneticVariation |
BEFREE |
We had previously demonstrated that a complete loss of function in ZMPSTE24 was lethal in the neonatal period, whereas compound heterozygous mutations including one PTC and one missense mutation were associated with type B mandibuloacral dysplasia.
|
21267004 |
2011 |
|
ZMPSTE24
|
Mandibuloacral dysostosis
|
0.100 |
GeneticVariation |
BEFREE |
Other distinguishing features in MAD due to ZMPSTE24 mutations may include premature birth, renal disease, calcified skin nodules, and lack of acanthosis nigricans.
|
20814950 |
2010 |
|
ZMPSTE24
|
Mandibuloacral dysostosis
|
0.100 |
GeneticVariation |
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 |
|
ZMPSTE24
|
Mandibuloacral dysostosis
|
0.100 |
GeneticVariation |
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 |
|
ZMPSTE24
|
Mandibuloacral dysostosis
|
0.100 |
GeneticVariation |
BEFREE |
We now report novel compound heterozygous mutations in exon 1 (c.121C>T; p.Q41X) and exon 6 (c.743C>T; p.P248L) in ZMPSTE24 in two Japanese sisters, 7- and 3-year old, with severe MAD and characteristic facies and atrophic skin.
|
18435794 |
2008 |
|
ZMPSTE24
|
Mandibuloacral dysostosis
|
0.100 |
GeneticVariation |
BEFREE |
Mandibuloacral dysplasia (MAD) is a rare autosomal recessive progeroid syndrome due to mutations in genes encoding nuclear lamina proteins, lamins A/C (LMNA) or prelamin A processing enzyme, and zinc metalloproteinase (ZMPSTE24).
|
18796515 |
2008 |
|
ZMPSTE24
|
Mandibuloacral dysostosis
|
0.100 |
Biomarker |
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 |
|
ZMPSTE24
|
Mandibuloacral dysostosis
|
0.100 |
GeneticVariation |
BEFREE |
We previously reported a Belgian woman with MAD who had ZMPSTE24 mutations and died of complications of chronic renal failure at the age of 27.5 years.
|
17152860 |
2006 |
|
ZMPSTE24
|
Mandibuloacral dysostosis
|
0.100 |
GeneticVariation |
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 |
|
ZMPSTE24
|
Mandibuloacral dysostosis
|
0.100 |
GeneticVariation |
BEFREE |
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.
|
12913070 |
2003 |