A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion.

KBG syndrome is a rare disease characterized by intellectual disability, typical craniofacial dysmorphism, macrodontia of the upper central incisors, short stature, and skeletal anomalies. Recently, ANKRD11 was identified as a gene that is responsible for the disease. In addition, microdeletion of 16q24.3, including ANKRD11, has been reported to result in the KBG syndrome phenotype. Herein, we discuss a Korean family with KBG syndrome, as identified by ANKRD11 gene mutation. The patients included a nine-month-old boy and his 21-month-old sister who failed to thrive and have delayed development. Chromosomal microarray was performed to identify the underlying genetic cause, but the results showed no abnormalities. However, the mother of the children was found to have features similar to her children. Therefore, we strongly suspected an autosomal-dominant inherited disease and performed whole exome sequencing. A mutation of ANKRD11 gene was found in all patients, and the frameshift variant c.2395-2398delAAAG was confirmed. Clinical manifestations of the patients were consistent with KBG syndrome. We reviewed all reported cases with confirmed ANKRD11 mutation or 16q24.3 microdeletion including ANKRD11. As a result, we conclude that severe short stature, intellectual disability, and macrodontia are the main characteristics in KBG syndrome related to ANKRD11 mutation.