Baller-Gerold Syndrome in a Premature Infant with a Mutation in the RECQL4 Gene
- Author:
Ji Sook KIM
1
Author Information
- Publication Type:Case Report
- Keywords: Craniosynostoses; Hand deformities; Infant, premature
- MeSH: Cranial Sutures; Craniosynostoses; DNA Replication; Exome; Exons; Extremities; Female; Hand; Hand Deformities; Humans; Infant, Newborn; Infant, Premature; Korea; Parturition; Sutures; Thumb; Upper Extremity
- From:Neonatal Medicine 2019;26(4):240-245
- CountryRepublic of Korea
- Language:English
- Abstract: 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.
