Craniosynostosis is defined as the premature fusion of the cranial sutures that result in abnormal head shapes and restrained cranial growth. It can manifest syndromic and yield multisutural fusions. Multisuture craniosynostosis is associated with many syndromes, but only ~12% of syndromic craniosynostosis cases are caused by chromosomal abnormalities. Chaisrisawadisuk et al. introduce a 2-month-old female patient who presented low birth weight, left unicoronal and sagittal synostoses causing asymmetrical head shape, dysmorphic facial features, hypotonia, and feeding difficulty. Her multiple symptoms prompted several genetic tests; common pathogenic variants associated with craniosynostosis were negative. Microarray analysis revealed a 9.05 Mb interstitial deletion from 14q32.12 to 14q32.31 (92.046-101.093). Based on her phenotype of low birth weight, muscular hypotonia, and small hands and feet, it is likely that the patient could have paternal deletion of chromosome 14q32, which results in Temple syndrome. However, craniosynostosis is not a key feature of this condition and the deleted segment was partially located outside of typical imprinted area. Therefore, the cause of the craniosynostosis has to be related to the genes outside of the imprinted genomic region. The authors consider the genes YY1 and BCL11B as candidate genes. Previous literature showed that several patients with deletions that encompassed YY1 gene had craniosynostosis. For the gene BCL11B, there have only been six patients in literature, with heterozygous loss-of-function mutations of BCL11B, who had variable craniosynostosis. The authors also note that whole exome/genome sequencing was not performed on the current patient; thus, there are possible variants in other genes who could be responsible for the craniosynostosis phenotype. Overall, this finding is important in improving our understanding of chromosome abnormalities in syndromic craniosynostosis cases. The authors emphasize a need for multidisciplinary action and treatment for rare chromosomal disorders such as the presented 14q32 case.
Chaisrisawadisuk et al. “Multisuture craniosynostosis: a case report of unusual presentation of chromosome 14q32 deletion”. “Child’s Nervous System” 2022, v. 39(5):1317-1322.
Chromosome Disorder Outreach Inc. medical geneticist and medical advisor Dr. Iosif Lurie M.D. Ph.D examines newly published research studies to locate the most important and relevant for our members. Synopses of these articles are then posted to our website’s research pages. For more information on any article please contact email@example.com