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Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency
S. Mazurova, M. Tesarova, J. Zeman, V. Stranecky, H. Hansikova, A. Baxova, M. Giertlova, J. Lastuvkova, V. Chovanova, S. Rusnakova, M. Knapkova, G. Minarik, T. Honzik, M. Magner
Jazyk angličtina Země Velká Británie
Typ dokumentu časopisecké články, pozorovací studie
Grantová podpora
PROGRES Q26/LF1
Charles University, Czech Republic
UNCE 204064
Charles University, Czech Republic
RVO-VFN64165/2012
Ministry of Health, Czech Republic
Odkazy
PubMed
32250467
DOI
10.1111/1346-8138.15317
Knihovny.cz E-zdroje
- MeSH
- dentinogenesis imperfecta diagnóza genetika mortalita MeSH
- dítě MeSH
- erbB receptory nedostatek genetika MeSH
- homozygot MeSH
- ichtyóza diagnóza genetika mortalita MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mutace ztráty funkce MeSH
- nemoci ledvin vrozené diagnóza genetika mortalita MeSH
- novorozenec nedonošený MeSH
- novorozenec s velmi nízkou porodní hmotností MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- Romové genetika MeSH
- sekvenování exomu MeSH
- stupeň závažnosti nemoci MeSH
- syndrom MeSH
- vrozené srdeční vady diagnóza genetika mortalita MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- Publikační typ
- časopisecké články MeSH
- pozorovací studie MeSH
- Geografické názvy
- Česká republika MeSH
- Slovenská republika MeSH
Epidermal growth factor receptor (EGFR) is a transmembrane glycoprotein with tyrosine-kinase signaling activity, involved in many cellular functions including cell growth and differentiation. Germ line loss-of-function mutations in EGFR lead to a severe neonatal skin disorder (Online Mendelian Inheritance in Man #131550). We report 18 premature Roma children from 16 families with birthweights ranging 440-1470 g and multisystem diseases due to the homozygous mutation c.1283G˃A (p.Gly428Asp) in EGFR. They presented with thin, translucent, fragile skin (14/15), skin desquamation (10/17), ichthyosis (9/17), recurrent skin infections and sepsis (9/12), nephromegaly (10/16) and congenital heart defects (7/17). Their prognosis was poor, and all died before the age of 6 months except one 13-year-old boy with a severe skin disorder, dentinogenesis imperfecta, Fanconi-like syndrome and secondary hyperaldosteronism. Management of ion and water imbalances and extremely demanding skin care may improve the unfavorable outcome of such patients.
Department of Neonatology Pediatric University Hospital Kosice Slovak Republic
Laboratory of Clinical Genetics Medirex Inc Kosice Slovak Republic
Laboratory of Genetics Medirex Inc Bratislava Slovak Republic
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- $a Epidermal growth factor receptor (EGFR) is a transmembrane glycoprotein with tyrosine-kinase signaling activity, involved in many cellular functions including cell growth and differentiation. Germ line loss-of-function mutations in EGFR lead to a severe neonatal skin disorder (Online Mendelian Inheritance in Man #131550). We report 18 premature Roma children from 16 families with birthweights ranging 440-1470 g and multisystem diseases due to the homozygous mutation c.1283G˃A (p.Gly428Asp) in EGFR. They presented with thin, translucent, fragile skin (14/15), skin desquamation (10/17), ichthyosis (9/17), recurrent skin infections and sepsis (9/12), nephromegaly (10/16) and congenital heart defects (7/17). Their prognosis was poor, and all died before the age of 6 months except one 13-year-old boy with a severe skin disorder, dentinogenesis imperfecta, Fanconi-like syndrome and secondary hyperaldosteronism. Management of ion and water imbalances and extremely demanding skin care may improve the unfavorable outcome of such patients.
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