Research Explained: Report of an Asian-Indian patient with Okur-Chung Syndrome and comparison of the clinical phenotype in different ethnic groups

Authors: Priya Ranganath, Prajnya Ranganath, V S Vineeth, Ashwin Dalal, Siddaramappa J Patil

Publication Date: 2021

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

Link to article: https://irp.cdn-website.com/5b9bc46f/files/uploaded/report_of_an_asian_indian_patient_with_okur_chung.12.pdf

Research Explained Summary:

This publication is a case report of a 6-year-old female with OCNDS that is of Asian-Indian origin. She presented with symptoms not previously reported for individuals with the p.Arg47Gln (R47Q) variant in the CSNK2A1 gene including a frontal upsweep with unusual patterning of scalp hairs, breath-holding spells, and talipes equinovarus (club foot). The authors noted that 3 other individuals with the same genetic variant also had facial dysmorphology including hypertelorism (abnormally increased distance between the eyes), arched eyebrows, low-set ears, and retrognathia (abnormal posterior positioning of the jaw). By publishing this report, the authors expanded knowledge about the symptom presentation across different ethnicities and helps define the presentation of individuals with the specific R47Q variant.