Clinical manifestations of a sporadic maturity-onset diabetes of the young (MODY) 5 with a whole deletion of HNF1B based on 17q12 microdeletion
| Autor: | Kunimasa Yagi, Kazuyuki Tobe, Jianhui Liu, Yukio Horikawa, Takahide Kuwano, Ayumi Nishimura, Hisae Honoki, Daisuke Chujo, Asako Enkaku, Shiho Fujisaka, Akiko Takikawa, Yoshiyuki Watanabe, Minoru Iwata, Yoshiyuki Omura, Mayumi Enya |
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| Rok vydání: | 2019 |
| Předmět: |
Adult
Male medicine.medical_specialty Endocrinology Diabetes and Metabolism MODY 5 030209 endocrinology & metabolism Gastroenterology Maturity onset diabetes of the young 03 medical and health sciences 0302 clinical medicine Endocrinology Japan Internal medicine Diabetes mellitus medicine Humans Magnesium Multiplex ligation-dependent probe amplification Pancreas Chromosomal Deletion Hepatocyte Nuclear Factor 1-beta business.industry Syndrome Microdeletion syndrome medicine.disease HNF1B Diabetes Mellitus Type 2 Liver 030220 oncology & carcinogenesis Calcium Tomography X-Ray Computed business Gene Deletion Chromosomes Human Pair 17 Comparative genomic hybridization |
| Zdroj: | Endocrine Journal. 66:1113-1116 |
| ISSN: | 1348-4540 0918-8959 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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