A rare form of ankyloblepharon filiforme adnatum associated with the Hay-Wells syndrome and a c.1709T>C mutation on the TP63 gene
Language English Country Great Britain, England Media print-electronic
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
- Keywords
- Ankyloblepharon filiforme adnatum, Hay–Wells syndrome, TP63 gene, congenital eyelids disorders, ectodermal dysplasia, p63 protein,
- MeSH
- Eye Abnormalities diagnosis genetics surgery MeSH
- Ectodermal Dysplasia diagnosis genetics surgery MeSH
- Genetic Testing MeSH
- Gestational Age MeSH
- Heterozygote MeSH
- Humans MeSH
- Mutation, Missense genetics MeSH
- Young Adult MeSH
- Tumor Suppressor Proteins genetics MeSH
- Infant, Newborn MeSH
- Eyelids abnormalities surgery MeSH
- Ophthalmologic Surgical Procedures MeSH
- Cleft Palate diagnosis genetics surgery MeSH
- Cleft Lip diagnosis genetics surgery MeSH
- Transcription Factors genetics MeSH
- Check Tag
- Humans MeSH
- Young Adult MeSH
- Infant, Newborn MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- Tumor Suppressor Proteins MeSH
- TP63 protein, human MeSH Browser
- Transcription Factors 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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