Research Explained: Inherited loss of function variant in CSNK2A1: the oldest reported cases of Okur-Chung syndrome in a single family (2024)

Authors: Himanshu Goel and Sheridan O’Donnell

Publication Date: May 31, 2024

Research Explained By: Gabrielle Rushing, PhD, Science Program Director 

Research Simplified Summary:

This publication describes a family where two members have the same genetic change in the CSNK2A1 gene, causing OCNDS. This case report is unique as it presents the oldest known individual known living with OCNDS; specifically, the mother is 68 years old, and her son is 42 years old. Both individuals have the c.904del (p. Asp302Thrfs*27) change in the CSNK2A1 gene, which is a deletion that shifts the CSNK2A1 sequence out of alignment, resulting in a jumbled sequence that creates a protein that doesn’t function as it should. 

The mother had a history of learning difficulties and likely mild intellectual disability. The son had a history of depression, chronic headache, aggression, vision problems, poor coordination, and facial abnormalities. The mother shared some of the facial abnormalities. A newly reported symptom in OCNDS in this publication was cryptorchidism - a condition in which one or both of the testes fail to descend from the abdomen into the scrotum. The foundation has heard of one other instance of this in an OCNDS patient, but this is the first publication recording this symptom. He had mild to moderate intellectual disability and was employed as a physical laborer by a vocational service. 

This publication is important as it highlights the oldest known OCNDS patient to date, presents an additional case of OCNDS being inherited, provides new insights into OCNDS symptoms, and provides examples of OCNDS patients in adulthood.