Baller-Gerold Syndrome in a Premature Infant with a Mutation in the RECQL4 Gene

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.

Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms

“…The distinguishing feature of BGS is craniosynostosis, which can lead to death in early childhood without surgery [ 164 ]. Of note, many reported BGS cases are of terminated pregnancies, limiting the description of additional clinical findings [ 112 , 113 , 114 , 194 ]. As we increase our understanding of the genetic cause of BGS and RTS, it may be more appropriate to consider them as a single disease with variable expressivity.…”