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Phenotypic differences and similarities of monozygotic twins with maturity‐onset diabetes of the young type 5
Here, we report phenotypic differences and similarities of monozygotic twins with maturity‐onset diabetes of the young type 5 harboring a partial deletion of chromosome 17q12. The proband and her twin sister manifested complete aplasia and marked hypoplasia, respectively, of the body and tail of the...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626997/ https://www.ncbi.nlm.nih.gov/pubmed/30637974 http://dx.doi.org/10.1111/jdi.13004 |
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author | Ohara, Yasuko Okada, Yuko Yamada, Tomoko Sugawara, Kenji Kanatani, Masayuki Fukuoka, Hidenori Hirota, Yushi Maeda, Takaki Morisada, Naoya Iijima, Kazumoto Ogawa, Wataru |
author_facet | Ohara, Yasuko Okada, Yuko Yamada, Tomoko Sugawara, Kenji Kanatani, Masayuki Fukuoka, Hidenori Hirota, Yushi Maeda, Takaki Morisada, Naoya Iijima, Kazumoto Ogawa, Wataru |
author_sort | Ohara, Yasuko |
collection | PubMed |
description | Here, we report phenotypic differences and similarities of monozygotic twins with maturity‐onset diabetes of the young type 5 harboring a partial deletion of chromosome 17q12. The proband and her twin sister manifested complete aplasia and marked hypoplasia, respectively, of the body and tail of the pancreas. Whereas both twins showed marked hypoplasia of the right kidney and multiple cysts in both kidneys, only the proband's sister showed hydronephrosis in the left kidney. The proband had profound defects in insulin and glucagon secretion, as well as mild renal dysfunction, whereas her sister had pronounced renal dysfunction accompanied by mild defects in insulin and glucagon secretion. Both twins manifested hypomagnesemia and hyperuricemia, but no apparent liver dysfunction or intellectual disability. The severity of renal and pancreatic defects differed between monozygotic twins with maturity‐onset diabetes of the young type 5, suggesting that the phenotypes of this condition are determined not solely by genetic factors. |
format | Online Article Text |
id | pubmed-6626997 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-66269972019-07-17 Phenotypic differences and similarities of monozygotic twins with maturity‐onset diabetes of the young type 5 Ohara, Yasuko Okada, Yuko Yamada, Tomoko Sugawara, Kenji Kanatani, Masayuki Fukuoka, Hidenori Hirota, Yushi Maeda, Takaki Morisada, Naoya Iijima, Kazumoto Ogawa, Wataru J Diabetes Investig Articles Here, we report phenotypic differences and similarities of monozygotic twins with maturity‐onset diabetes of the young type 5 harboring a partial deletion of chromosome 17q12. The proband and her twin sister manifested complete aplasia and marked hypoplasia, respectively, of the body and tail of the pancreas. Whereas both twins showed marked hypoplasia of the right kidney and multiple cysts in both kidneys, only the proband's sister showed hydronephrosis in the left kidney. The proband had profound defects in insulin and glucagon secretion, as well as mild renal dysfunction, whereas her sister had pronounced renal dysfunction accompanied by mild defects in insulin and glucagon secretion. Both twins manifested hypomagnesemia and hyperuricemia, but no apparent liver dysfunction or intellectual disability. The severity of renal and pancreatic defects differed between monozygotic twins with maturity‐onset diabetes of the young type 5, suggesting that the phenotypes of this condition are determined not solely by genetic factors. John Wiley and Sons Inc. 2019-02-15 2019-07 /pmc/articles/PMC6626997/ /pubmed/30637974 http://dx.doi.org/10.1111/jdi.13004 Text en © 2019 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. |
spellingShingle | Articles Ohara, Yasuko Okada, Yuko Yamada, Tomoko Sugawara, Kenji Kanatani, Masayuki Fukuoka, Hidenori Hirota, Yushi Maeda, Takaki Morisada, Naoya Iijima, Kazumoto Ogawa, Wataru Phenotypic differences and similarities of monozygotic twins with maturity‐onset diabetes of the young type 5 |
title | Phenotypic differences and similarities of monozygotic twins with maturity‐onset diabetes of the young type 5 |
title_full | Phenotypic differences and similarities of monozygotic twins with maturity‐onset diabetes of the young type 5 |
title_fullStr | Phenotypic differences and similarities of monozygotic twins with maturity‐onset diabetes of the young type 5 |
title_full_unstemmed | Phenotypic differences and similarities of monozygotic twins with maturity‐onset diabetes of the young type 5 |
title_short | Phenotypic differences and similarities of monozygotic twins with maturity‐onset diabetes of the young type 5 |
title_sort | phenotypic differences and similarities of monozygotic twins with maturity‐onset diabetes of the young type 5 |
topic | Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626997/ https://www.ncbi.nlm.nih.gov/pubmed/30637974 http://dx.doi.org/10.1111/jdi.13004 |
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