Baller-Gerold Syndrome in a Premature Infant with a Mutation in the RECQL4 Gene
Neonatal Medicine
;
: 240-245, 2019.
Article
in English
| WPRIM
| ID: wpr-786434
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Sutures
/
Thumb
/
Infant, Premature
/
Hand Deformities
/
Exons
/
Cranial Sutures
/
Craniosynostoses
/
Upper Extremity
/
Parturition
/
DNA Replication
Limits:
Female
/
Humans
/
Infant, Newborn
Country/Region as subject:
Asia
Language:
English
Journal:
Neonatal Medicine
Year:
2019
Type:
Article
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