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

Figure

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  Figure 1. Hypoplastic thumbs on both hands. (A) Floating thumb on the right hand, (B) a malformed thumb with a tight web space between the thumb and index finger on the left hand.

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  Figure 2. Hand X-ray, elbow X-ray, and three-dimensional (3D)-head computed tomography (CT). Hand X-ray showing (A) rudimentary bones in the floating thumb of the right hand and (B) a malformed thumb with tight web of the left hand (narrow arrows), elbow X-ray showing the suspected dislocated joints of the right (C) and left (D) elbows (broad arrows), 3D-head CT showing bilateral premature fusion of coronary sutures (E, F).

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  Figure 3. Direct polymerase chain reaction (PCR) and sequencing on the RecQ like helicase 4 (RECQL4) gene (exon 13 to 19) in the patient and their family. (A) Homozygous deletions from exon 13 to 17 and in part of exon 18 in the RECQL4 gene were detected in the patient. (B) The results of direct PCR and sequencing in the parents and sister were normal.

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