Intractable & Rare Diseases Research
Original Articles
A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly
Toshiyuki SetoTakashi HamazakiSatsuki NishigakiSatoshi KudoHaruo ShintakuYumiko OndoKeiko ShimojimaToshiyuki Yamamoto
Author information
JOURNALS FREE ACCESS

Volume 6 (2017) Issue 3 Pages 177-182

Details
Download PDF (670K) Contact us
Abstract

The calcium/calmodulin-dependent serine protein kinase gene (CASK) mutations are associated with various neurological disorders; a syndrome of intellectual disability (ID) and microcephaly with pontine and cerebellar hypoplasia (MICPCH), FG syndrome, X-linked ID with/without nystagmus, epileptic encephalopathy, and autistic spectrum disorder (ASD). Next generation sequencing was performed to elucidate genetic causes in siblings exhibiting developmental disorders, and a novel CASK mutation, c.1424G>T (p.Ser475Ile), was detected in a male patient with ID, ASD, and microcephaly. Radiological examination of his brain showed no structural abnormality. The identified mutation was shared with the healthy mother and a younger sister exhibiting ASD. Although the mother showed a skewed X-chromosome inactivation (XCI) pattern, the sister showed a paradoxical XCI pattern. This would explain why this sister possessed a normal intellectual level, but showed the same ASD symptoms as the affected brother. A novel CASK mutation was identified in two siblings with ID and/or ASD, suggesting a relationship between the CASK mutation and ASD. Recently performed large molecular cohorts for patients with developmental disorders suggest that CASK is one of the genes related to developmental disorders. For better understanding of genotype-phenotype correlation in ASD cases with CASK mutations, more information should be accumulated.

Information related to the author
© 2017 International Research and Cooperation Association for Bio & Socio-Sciences Advancement
Previous article Next article

Recently visited articles
feedback
Top