|
KMID : 1039920190260040240
|
|
Neonatal Medicine
2019 Volume.26 No. 4 p.240 ~ p.245
|
|
|
Baller-Gerold Syndrome in a Premature Infant with a Mutation in the RECQL4 Gene
|
|
Kim Ji-Sook
|
|
|
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
|
|
|
FullTexts / Linksout information
|
|
|
|
|
Listed journal information
|
|
 
|