Bart's Syndrome with Novel Frameshift Mutations in the COL7A1 Gene.
Fetal Pediatr Pathol
; 38(1): 72-79, 2019 Feb.
Article
em En
| MEDLINE
| ID: mdl-30523708
ABSTRACT
INTRODUCTION:
Bart's syndrome, a hereditary mechanobullous disorder characterized by aplasia cutis congenita (ACC) with epidermolysis bullosa (EB), has not been genotyped frequently. CASE REPORT A full-term female neonate had well-demarcated absence of skin on both legs at birth, with blisters and erosive patches developing immediately after birth. Electron microscopy showed blister formation under the lamina densa layer. Genetic studies revealed two heterogenous frameshift mutations in exons 31 and 109 of COL7A1. A diagnosis of Bart's syndrome, recessive dystrophic EB with ACC, was made. There was no pyloric atresia or ureteral stenosis, but congenital hypothyroidism was diagnosed 42 days after birth.CONCLUSION:
The novel frameshift mutations in COL7A1 may result in Bart's syndrome and suggest the importance of genetic testing in diagnosis of this disease.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Displasia Ectodérmica
/
Epidermólise Bolhosa Distrófica
/
Colágeno Tipo VII
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
Fetal Pediatr Pathol
Ano de publicação:
2019
Tipo de documento:
Article