Neonatal Med.  2019 Nov;26(4):240-245. 10.5385/nm.2019.26.4.240.

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

• Kim JS

• KMID: 2466646
• DOI: http://doi.org/10.5385/nm.2019.26.4.240

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.

Keyword

Craniosynostoses; Hand deformities; Infant, premature

MeSH Terms

Cranial Sutures
Craniosynostoses
DNA Replication
Exome
Exons
Extremities
Female
Hand
Hand Deformities
Humans
Infant, Newborn
Infant, Premature*
Korea
Parturition
Sutures
Thumb
Upper Extremity