Neonatal Medicine

The Korean Society of Neonatology (대한신생아학회)
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Baller-Gerold Syndrome in a Premature Infant with a Mutation in the RECQL4 Gene

  • Kim, Ji Sook (Department of Pediatrics, Kyungpook National University Children's Hospital, School of Medicine, Kyungpook National University)
  • Received : 2019.07.25
  • Accepted : 2019.09.23
  • Published : 2019.11.30
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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.

Keywords

References

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