Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity
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 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...
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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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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...
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Restrictive dermopathy (RD), is an autosomal recessive lethal human genetic disorder. It is characterized by intrauterine growth retardation, tight and rigid skin with erosions, multiple joint contractures, lung hypoplasia, prominent superficial vasculature, and epidermal hyperkeratosis. In the present report, we describe the first case of restrictive dermopathy in a stillborn fetus of Iranian ...
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ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2010
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2010.01580.x