Restrictive dermopathy in a Turkish newborn.
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.
Cerrahpasa Medical Faculty, Department of Pediatric Genetics, Istanbul University, Istanbul, Turkey.
Gözde
G
Yesil
Lhan
L
Hatipoglu
Vera
V
Esteves-Vieira
Nicolas
N
Levy
Annachiara
A
De Sandre-Giovannoli
Beyhan
B
Tüysüz
D001483:Base Sequence; D015193:Chorionic Villi Sampling; D003286:Contracture / Q000175:diagnosis / Q000235:genetics* / Q000151:congenital; D005091:Exons; D017809:Fatal Outcome; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008666:Metalloendopeptidases / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D012868:Skin Abnormalities / Q000175:diagnosis / Q000235:genetics*
D008565:Membrane Proteins; D008666:Metalloendopeptidases; C120130:ZMPSTE24 protein, human