Research Explained: Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome

Authors: Moe Akahira-Azuma, Yoshinori Tsurusaki, Yumi Enomoto, Jun Mitsui, Kenji Kurosawa

Publication Date: March 29, 2018

Research Explained By: Brad Davidson, CSNK2A1 Foundation Science Communication Intern

Link to article: https://www.nature.com/articles/hgv201811

Research Explained Summary:

This case report described a Japanese male OCNDS patient conceived through in vitro fertilization (IVF) with distinctive features separating them from previously described patients, including specific facial features, a friendly and interactive disposition, and macrocephaly (brain/head larger than is typical). This patient was referred to a clinic at 2 years and 10 months of age for a genetic evaluation. At this time, he was nonverbal and was not walking without support. However, he started walking without support at 3 years old, and said his first meaningful words at the age of 6 years. He started school at 7 years old, which rapidly improved his speech to the point where he could answer simple questions but not express complex thoughts.

Genetic testing was performed, and a mutation (specifically c.593A>G or p.K198R) in the CSNK2A1 gene was found, causative of OCNDS. The authors compared their patient’s specific symptoms with those found in other neurodevelopmental disorders further indicating the variety of symptoms OCNDS patients might display also appear in other disorders.

  Pop-up definition: In vitro fertilization (IVF) is a medical procedure that helps some people have babies when they have difficulty doing so naturally. Instead of the baby forming inside the mother's body, like in a natural pregnancy, IVF happens outside the body. [BC1]

Here's how it works: Eggs are taken from a woman's ovaries and sperm from a man, and they are combined in a lab dish. When the egg and sperm meet and create an embryo, the doctors put that embryo back into the woman's uterus. If everything goes well, the embryo can grow into a baby inside the mother, just like a regular pregnancy.