According to researchers, the condition is the result of mutations in the NKAP gene. Aiko Otsubo, a co-author of the study, writes: “NKAP is a ubiquitously expressed nucleoplasmic protein that is currently known as a transcriptional regulatory molecule via its interaction with HDAC3 and spliceosomal proteins.”
“Here, we report a disorder of transcriptional regulation due to missense mutations in the X chromosome gene, NKAP. These mutations are clustered in the C-terminal region of NKAP where NKAP interacts with HDAC3 and post-catalytic spliceosomal complex proteins.”
The results were established through exome sequencing on 10 participants, from different age groups, all with a history of developmental delay, intellectual disability, behavioral problems, scoliosis, among other conditions.
During exome sequencing, researchers identified mutations in the NKAP gene associated with the X chromosome, but only male participants exhibited such symptoms caused by the mutations.
“Consistent with a role for the C-terminal region of NKAP in embryogenesis, nkap mutant zebrafish with a C-terminally truncated NKAP demonstrate severe developmental defects,” Otsubo detailed.
“These observations indicate the critical role of NKAP in transcriptional regulation and demonstrate that perturbations of the C-terminal region lead to developmental defects in both humans and zebrafish.”