Restrictive dermopathy in a Turkish newborn
Date
2011Author
Levy, Nicolas
Yesil, Gözde
Esteves-Vieira, Vera
De Sandre-Giovannoli, Annachiara
Tuysu, Beyhan
Hatipoglu, Ihan
Metadata
Show full item recordAbstract
A 4-day-old boy presented with tight, translucent skin, prominent vessels, skin erosions, and dysmorphic findings, including hypertelorism, antimongoloid axis, sparse eyelashes and eyebrows, pinched nose, natal teeth, microretrognathia, and an "o-shaped" mouth. Multiple joint contractures, dysplastic clavicles, and thin ribs were also observed. He died at 2 weeks of age of respiratory distress. The patient was diagnosed as being affected with restrictive dermopathy, which is a rare, lethal genodermatosis caused by recessive mutations of the zinc metalloproteinase ZMPSTE24 gene or less frequently, by dominant lamin A/C gene mutations. Direct sequencing of the ZMPSTE24 gene was performed, and the most common, homozygous, inactivating mutation in exon 9 was identified in the patient (c.1085_1086insT; p.Leu362PhefsX19). Autosomal recessive transmission was confirmed by parental DNA analysis. After genetic counseling, a prenatal diagnosis could be performed during the subsequent pregnancy. ZMPSTE24 screening was performed by direct sequencing and fluorescent fragment analysis on DNA derived from a chorionic villus sample after exclusion of maternal contamination. The fetus had inherited both normal parental alleles, avoiding the recurrence of the disease.
URI
http://hdl.handle.net/20.500.12627/92075https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=79960770502&origin=inward
https://doi.org/10.1111/j.1525-1470.2010.01296.x
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