Bart's Syndrome with Novel Frameshift Mutations in the COL7A1 Gene. (2nd January 2019)

• Record Type: Journal Article
• Authors: Han, Young Mi; Lee, Narae; Byun, Shin Yun; Cheon, Sang-Jin; Ko, Hyun-Chang
• Is Part Of: Fetal and pediatric pathology. Volume 38:Number 1(2019)
• Page Start: 72
• Page End: 79
• Publication Date: 2019-01-02
• Subjects: Bart's syndrome -- epidermolysis bullosa -- aplasia cutis congenita -- COL7A1 -- mutation; Pathology, Molecular -- Periodicals; Pediatrics -- Periodicals; Molecular biology -- Periodicals; Pediatric pathology -- Periodicals; Fetal Diseases -- pathology -- Periodicals; Infant, Newborn, Diseases -- pathology -- Periodicals; Pediatrics -- Periodicals; 618.92007
• DOI: 10.1080/15513815.2018.1543370
• Languages: English
• ISSNs: 1551-3815

Abstract

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.