Baller-Gerold Syndrome in a Premature Infant with a Mutation in the RECQL4 Gene
| Autor: | Ji Sook Kim |
|---|---|
| Jazyk: | English<br />Korean |
| Rok vydání: | 2019 |
| Předmět: | |
| Zdroj: | Neonatal Medicine, Vol 26, Iss 4, Pp 240-245 (2019) |
| Druh dokumentu: | article |
| ISSN: | 2287-9412 2287-9803 |
| DOI: | 10.5385/nm.2019.26.4.240 |
| Popis: | Baller-Gerold syndrome is a rare autosomal recessive disorder characterized by premature fusion of the cranial sutures and malformation of the upper limb extremities at birth. Although the pathogenesis of Baller-Gerold Syndrome is not fully understood, it is mainly caused by mutations in the RecQ like helicase 4 (RECQL4) gene located on chromosome 8q24.3, which encodes the RECQL4 protein involved in normal DNA replication and repair. This study reports the case of a female premature infant with craniosynostosis of bilateral coronal sutures, resulting in a dysmorphic face and hypoplastic thumbs on both hands at birth, which are consistent with the core characteristics of Baller-Gerold syndrome. Diagnostic whole exome sequencing of the patient revealed a homozygous deletion from exon 13 to 18 in the RECQL4 gene. To the best of my knowledge, this is the first reported case of Baller-Gerold syndrome with RECQL4 gene mutation confirmed by diagnostic whole exome sequencing in Korea. |
| Databáze: | Directory of Open Access Journals |
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