New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update
نویسندگان
چکیده
منابع مشابه
Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity.
Restrictive dermopathy (RD) results in stillbirth or early neonatal death. RD is characterized by prematurity, intrauterine growth retardation, fixed facial expression, micrognathia, mouth in the 'o' position, rigid and tense skin with erosions and denudations and multiple joint contractures. Nearly all 25 previously reported neonates with RD had homozygous or compound heterozygous null mutatio...
متن کاملProgeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C
The clinical course of a female patient affected by a progeroid syndrome with Restrictive Dermopathy (RD)-like features was followed up. Besides missing hairiness, stagnating weight and growth, RD-like features including progressive skin swelling and solidification, acrocontractures, osteolysis and muscular hypotension were observed until the patient died at the age of 11 months. A homozygousLM...
متن کاملRestrictive Dermopathy.
http://dx.doi.org/10.1016/j.pedneo.2015.09.005 1875-9572/Copyright a 2015, Taiwan Pediatric Association. Published CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd third degree consanguineous parentage and delivered at 33 weeks of gestation by caesarean section. The weight at birth was 1.02 kg, and the occipitofrontal circumference was 30.5 cm. She had a wide anterior fontanell...
متن کاملLoss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.
Restrictive dermopathy (RD) is characterized by intrauterine growth retardation, tight and rigid skin with prominent superficial vessels, bone mineralization defects, dysplastic clavicles, arthrogryposis and early neonatal death. In two patients affected with RD, we recently reported two different heterozygous splicing mutations in the LMNA gene, leading to the production and accumulation of tr...
متن کاملRestrictive dermopathy in two sisters.
Restrictive dermopathy (RD) is a very rare and lethal congenital skin disease. It is inherited by an autosomal recessive pattern with characteristic features of abnormally rigid skin, generalized joint contractures (arthrogryposis), and dysmorphic facies consisting of downward slanting eyes, a small pinched nose, low-set ears, a fixed open mouth in the O-position, and micrognathia. We report on...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2013
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2013.258