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Novel CNNM4 variant and clinical features of Jalili syndrome
Khanti Rattanapornsompong1, Patcharaporn Gavila1,2, Somkanya Tungsanga3
1Center of Excellence in Genomics and Precision Dentistry, Geriatric Dentistry and Special Patients Care Program, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.
Abstract:
The study identifies a non-consanguineous multigenerational family of the Lua ethnic group in Northern Thailand with three members affected with hypoplastic-hypocalcified amelogenesis imperfecta, cone-rod dystrophy, and harboring a novel homozygous missense variant, c.1475G>A p.(Gly492Asp), in CNNM4, indicating Jalili syndrome. We report features including advanced dental age, crossbite, developmental delay, expanding genotypic and phenotypic spectra of Jalili syndrome, and perform the prenatal genetic testing that helps avoid unnecessary pregnancy termination.
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