A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization

This article presents the first reported familial case of 17q12 recurrent deletion syndrome in Russia, involving a female patient with diabetes and her daughter diagnosed with atypical autism without intellectual disability. A comprehensive analysis of the molecular genetic features and intrafamilial variability of clinical manifestations was performed. In addition, clinical, laboratory, and instrumental findings were compared with those observed in a classical case of maturity-onset diabetes of the young type 5 (MODY5). Furthermore, the disease course associated with other genetic alterations affecting the 17q12 region, including 17q12 microduplications and various pathogenic variants of the HNF1B gene, was comparatively evaluated. Given the orphan nature of this condition, the present report adds to the limited existing data on the clinical and genetic characteristics of 17q12 recurrent deletion syndrome.