A case of 17q12 deletion syndrome characterized by hypokalemia and hypomagnesemia

Abstract

Abstract Background The 17q12 deletion syndrome is a rare autosomal dominant disease, the phenotypes of genetic diseases include abnormalities of the kidney, pancreas, brain, gastrointestinal tract, and reproductive tract. The manifestations of these diseases vary among individuals, and the clinical manifestations are different. Here we report a case of 17q12 deletion syndrome characterized by hypokalemia and hypomagnesemia to explore the diagnosis and treatment of 17q12 deletion syndrome. Case presentation: A 14-year-old young man was diagnosed with diabetes, further examination indicated that the patient had renal cysts, hepatic cysts, pancreatic atrophy, and mental retardation, in addition, the patient continued to have refractory hypokalemia and hypomagnesemia. A copy number heterozygous deletion of 1359.63kb was detected in the 17q12 region of the patient, the deletion interval was chr17:36385253 to 37744884, which contains 4 known Online Mendelian Inheritance in Man (OMIM) pathogenic genes, including PIGW, ZNHIT3, HNF1β, ACACA. Finally, Maturity-onset diabetes of the young type 5(MODY5) caused by HNF1β heterozygosity missing based on 17q12 deletion syndrome was confirmed. Conclusion The patient was diagnosed with diabetes combined with renal cysts, hepatic cysts, pancreatic atrophy, this suggested that we should consider the possibility of MODY5, in addition, the patient was complicated with intellectual disability, refractory hypomagnesemia and hypomagnesemia, these unexplained abnormal laboratory results and symptoms remind us of the possibility of screening for genetic syndromes. 17q12 deletion syndrome is an extremely rare genetic disorder affecting multiple organ systems, diabetic physicians should be alert to the possibility of MODY5 caused by 17q12 deletion syndrome.