The disease is caused by germline bi-allelic mutations in CDK10. All variants reported were homozygous. Mutations are predicted protein truncation, including frame shift variants, splice site variants and a small homozygous 16q24.3 microdeletion encompassing exons 2 and 3 of CDK10.
The pathogenic variants are detected by CDK10 sequencing or microarray analysis. Molecular testing approaches can include use of a single-gene testing, multigene panel or exome sequencing. Parents’ targeted genetic testing of identified variants is recommended to verify the segregation.
Suspected pathophysiological mechanism
It was suggested that loss of function of CDK10 can lead to ciliary defects.