Academic Journal
A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied
| Τίτλος: | A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied |
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| Συγγραφείς: | Zhang S, Ma Y, Zang X, Heng H, Liu X, Peng G, Liu R, Liang J, Geng H |
| Πηγή: | The Application of Clinical Genetics, Vol 17, Pp 125-130 (2024) |
| Στοιχεία εκδότη: | Dove Medical Press, 2024. |
| Έτος έκδοσης: | 2024 |
| Συλλογή: | LCC:Medicine (General) LCC:Genetics |
| Θεματικοί όροι: | 17q12 microdeletion syndrome, hnf-1β gene, special-type diabetes, mody5, polycystic kidneys, liver damage, Medicine (General), R5-920, Genetics, QH426-470 |
| Περιγραφή: | Shuping Zhang,1,* Yamei Ma,1,* Xiu Zang,2 Hao Heng,2 Xuekui Liu,2 Gangshan Peng,3 Ran Liu,3 Jun Liang,1,2,* Houfa Geng1,2,* 1Graduate School, Bengbu Medical University, Bengbu, Anhui, People’s Republic of China; 2Department of Endocrinology, Xuzhou Central Hospital, Xuzhou, Jiangsu, People’s Republic of China; 3The Affiliated Xuzhou Clinical College, Xuzhou Medical University, Xuzhou, Jiangsu, People’s Republic of China*These authors contributed equally to this workCorrespondence: Houfa Geng; Jun Liang, Email genghoufa@xzhmu.edu.cn; liangjun@xzhmu.edu.cnAbstract: Maturity Onset Diabetes of the Young (MODY) is an autosomal dominant inherited disorder prevalent among adolescents. Typically, it manifests with hyperglycemia before the age of 25. MODY5 is attributed to a mutation in the Hepatocyte Nuclear Factor-1β (HNF-1β) gene. A complete absence of HNF-1β is observed in 50% of those with MODY5. The 17q12 microdeletion syndrome closely linked with MODY5. Its incidence in the general population is around 1 in 14,500 and is linked with facial deformities, diabetes, polycystic kidneys, pancreatic hypertrophy, liver anomalies, and neuropsychological impairments. The most primary clinical signs are predominantly associated with the HNF-1β gene deletion. We chronicle the case of a male of 19 years of age diagnosed with diabetes, who, alongside persistent liver damage and polycystic kidneys, was referred from a community hospital to the Xuzhou Central Hospital. His clinical presentation included diabetes, liver dysfunction, polycystic kidneys, lipid irregularities, insulin resistance, and fatty atrophy. Subsequent genetic screening unveiled a 17q12 chromosomal deletion and an absence of the Hepatocyte Nuclear Factor-1β (HNF-1β) gene. Hence, for adolescent patients lacking a familial diabetes history but exhibiting symptoms like polycystic kidneys, liver damage, lipid irregularities, and fatty atrophy, a thorough assessment for the 17q12 microdeletion syndrome becomes imperative.Keywords: 17q12 microdeletion syndrome, HNF-1β gene, special-type diabetes, MODY5, polycystic kidneys, liver damage |
| Τύπος εγγράφου: | article |
| Περιγραφή αρχείου: | electronic resource |
| Γλώσσα: | English |
| ISSN: | 1178-704X |
| Relation: | https://www.dovepress.com/a-case-of-17q12-microdeletion-syndrome-in-a-mody5-type-diabetes-with-h-peer-reviewed-fulltext-article-TACG; https://doaj.org/toc/1178-704X |
| Σύνδεσμος πρόσβασης: | https://doaj.org/article/017ada4496ca4d1dbdcb293437d3e84c |
| Αριθμός Καταχώρησης: | edsdoj.017ada4496ca4d1dbdcb293437d3e84c |
| Βάση Δεδομένων: | Directory of Open Access Journals |
| ISSN: | 1178704X |
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