A rare form of ankyloblepharon filiforme adnatum associated with the Hay-Wells syndrome and a c.1709T>C mutation on the TP63 gene
Jazyk angličtina Země Velká Británie, Anglie Médium print-electronic
Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem
- Klíčová slova
- Ankyloblepharon filiforme adnatum, Hay–Wells syndrome, TP63 gene, congenital eyelids disorders, ectodermal dysplasia, p63 protein,
- MeSH
- abnormality očí diagnóza genetika chirurgie MeSH
- ektodermální dysplazie diagnóza genetika chirurgie MeSH
- genetické testování MeSH
- gestační stáří MeSH
- heterozygot MeSH
- lidé MeSH
- missense mutace genetika MeSH
- mladý dospělý MeSH
- nádorové supresorové proteiny genetika MeSH
- novorozenec MeSH
- oční víčka abnormality chirurgie MeSH
- oftalmologické chirurgické výkony MeSH
- rozštěp patra diagnóza genetika chirurgie MeSH
- rozštěp rtu diagnóza genetika chirurgie MeSH
- transkripční faktory genetika MeSH
- Check Tag
- lidé MeSH
- mladý dospělý MeSH
- novorozenec MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
- Názvy látek
- nádorové supresorové proteiny MeSH
- TP63 protein, human MeSH Prohlížeč
- transkripční faktory MeSH
INTRODUCTION: Ankyloblepharon filiforme adnatum associated with Hay-Wells syndrome is a rare congenital disease caused by mutations in TP63 gene on the 3q27 chromosome. Here, we report a case of a new-born suffering from this syndrome in whom we detected a mutation c.1709T>C not previously included in the Ensemble database. CASE DESCRIPTION: A girl delivered in the 34th week of gestation from a physiological pregnancy was born with extensive burn-like skin defects, ankyloblepharon filiforme adnatum, palate cleft, onychodystrophy of all limbs and syndactyly of toes. Hay-Wells syndrome was suspected and confirmed by genetic examination. A heterozygous missense change c.1709T>C was found in the TP63 gene. This variant leads to a 570th codon exchange of leucine for proline (p.Leu570Pro) on the protein level. The eyelid separation was performed surgically, burns were treated locally and cosmetic surgeries correcting other defects are planned for the near future. The girl is still monitored by a multidisciplinary team. CONCLUSIONS: The mutation was not previously described in the literature or databases and should be included into these as probably pathogenic. A multidisciplinary approach is necessary to care for a patient with Hay-Wells syndrome, such care however can provide good results.
b Department of Medical Genetics University Hospital Ostrava Czech Republic
c Department of Neonatology University Hospital Ostrava Czech Republic
Clinic of Ophthalmology University Hospital Ostrava Czech Republic
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