Clinical manifestations of a sporadic maturity-onset diabetes of the young (MODY) 5 with a whole deletion of HNF1B based on 17q12 microdeletion

• Published in: Endocrine Journal Vol. 66; no. 12; pp. 1113 - 1116
• Main Authors: Omura, Yoshiyuki, Yagi, Kunimasa, Honoki, Hisae, Iwata, Minoru, Enkaku, Asako, Takikawa, Akiko, Kuwano, Takahide, Watanabe, Yoshiyuki, Nishimura, Ayumi, Liu, Jianhui, Chujo, Daisuke, Fujisaka, Shiho, Enya, Mayumi, Horikawa, Yukio, Tobe, Kazuyuki
• Format: Journal Article
• Language: English
• Published: Japan The Japan Endocrine Society 01-01-2019; Japan Science and Technology Agency
• Subjects: 17q12 microdeletion syndrome; Adult; Age; Autoimmune diseases; Calcium - urine; Chromosome deletion; Chromosomes, Human, Pair 17 - genetics; Diabetes; Diabetes mellitus; Diabetes Mellitus, Type 2 - diagnosis; Diabetes Mellitus, Type 2 - genetics; Diabetes Mellitus, Type 2 - physiopathology; Gene Deletion; Health risk assessment; Hepatocyte Nuclear Factor 1-beta - genetics; HNF1B; Humans; Hybridization; Hyperuricemia; Hypomagnesemia; Hypoplasia; Japan; Liver - enzymology; Magnesium - blood; Male; Maturity; Pancreas; Pancreas - physiopathology; Serum levels; Sporadic maturity-onset diabetes of the young (MODY) 5; Syndrome; Tomography, X-Ray Computed; Japan; Sporadic maturity-onset diabetes of the young (MODY) 5; HNF1B; 17q12 microdeletion syndrome
• ISSN: 0918-8959; 1348-4540
• DOI: 10.1507/endocrj.EJ19-0020

We report a sporadic case of maturity-onset diabetes of the young type 5 (MODY5) with a whole-gene deletion of the hepatocyte nuclear factor-1beta (HNF1B) gene. A 44-year-old Japanese man who had been diagnosed with early-onset non-autoimmune diabetes mellitus at the age of 23 was examined. He showed multi-systemic symptoms, including a solitary congenital kidney, pancreatic hypoplasia, pancreatic exocrine dysfunction, elevation of the serum levels of liver enzymes, hypomagnesemia, and hyperuricemia. These clinical characteristics, in spite of the absence of a family history of diabetes, prompted us to make the diagnosis of maturity-onset diabetes of the young 5 (MODY 5). One allele deletion of the entire HNF1B gene revealed by multiplex ligation-dependent probe amplification (MLPA) led us to the diagnoses of 17q12 microdeletion syndrome even though there were negative chromosomal analyses with array comparative genomic hybridization (CGH). 17q12 microdeletion syndrome, which is not rare especially in sporadic cases since 17q12 is a typical hot spot for chromosomal deletion, could have complicated the clinical heterogeneity of MODY5.