A Novel Variant in the PAX4 Gene Causes Maturity-Onset Diabetes of the Young (MODY), Type IX with Neurodevelopmental Disorder

A genetically diverse condition, maturity-onset diabetes of the young (MODY), frequently develops before the age of 25. MODY is caused by disease-causing sequence variations in the PAX4 gene, which is found on chromosome 7q32.1. Additionally, it has also been observed that variants in PAX4 have also been associated with neurodevelopmental disability. Whole exome sequencing (WES) followed by Sanger sequencing was performed for all the available affected and unaffected members of the family. Data analysis revealed a novel heterozygous nonsense variant (c.61C>T; p.Gln21*) in the PAX4 gene in the affected individuals, which segregated perfectly with the disease phenotype. The present study adds to the PAX4 mutation spectrum and reports on the first case of MODY associated with neurodevelopmental disorders in humans.