Report of an Asian–Indian patient with Okur–Chung Syndrome and comparison of the clinical phenotype in different ethnic groups

Inherited loss of function variant in CSNK2A1: the oldest reported cases of Okur–Chung syndrome in a single family

“…MRI often reveals cortical neuronal migration defects. Published variants to date include 27 missense, 1 loss of start codon leading to loss of the first 137 amino acids in N terminal, 2 nonsense variants, 1 frameshift variant and 2 splice site variants (Okur et al ., 2016; Trinh et al ., 2017; Akahira-Azuma et al ., 2018; Chiu et al ., 2018; Colavito et al ., 2018; Owen et al ., 2018; Duan et al ., 2019; Nakashima et al ., 2019; Martinez-Monseny et al ., 2020; Wu et al ., 2020, 2021; Xu et al ., 2020a, b; Ranganath et al ., 2021; Jafari Khamirani et al ., 2022; Murakami et al ., 2022; Belnap et al ., 2023; Drenushe et al ., 2024; Wafik et al ., 2023). Clinvar and DECIPHER, however, list 25 and 3 loss of function variants, respectively including nonsense, frameshift and splice site variants.…”