Case Report: Diabetes in Chinese Bloom Syndrome
Bloom syndrome (BS) is a rare autosomal recessive disorder that causes several endocrine abnormalities. So far, only one BS pedigree, without diabetes, has been reported in the Chinese population. We presented the first case of BS with diabetes in the Chinese population and explored the clinical spe...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2021-06-01
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| Series: | Frontiers in Endocrinology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2021.524242/full |
| _version_ | 1819107953860411392 |
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| author | Mingqun Deng Miao Yu Ruizhi Jiajue Kai Feng Xinhua Xiao |
| author_facet | Mingqun Deng Miao Yu Ruizhi Jiajue Kai Feng Xinhua Xiao |
| author_sort | Mingqun Deng |
| collection | DOAJ |
| description | Bloom syndrome (BS) is a rare autosomal recessive disorder that causes several endocrine abnormalities. So far, only one BS pedigree, without diabetes, has been reported in the Chinese population. We presented the first case of BS with diabetes in the Chinese population and explored the clinical spectrum associated with endocrine. Possible molecular mechanisms were also investigated. Our study indicated that BS may be one rare cause of diabetes in the Chinese population. We also found a new pathogenic sequence variant in BLM (BLM RecQ like helicase gene)(NM_000057.4) c.692T>G, which may expand the spectrum of BLM variants. |
| first_indexed | 2024-12-22T03:02:14Z |
| format | Article |
| id | doaj.art-a0256120ed4f4db8957342b8c5d21b1c |
| institution | Directory Open Access Journal |
| issn | 1664-2392 |
| language | English |
| last_indexed | 2024-12-22T03:02:14Z |
| publishDate | 2021-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj.art-a0256120ed4f4db8957342b8c5d21b1c2022-12-21T18:41:08ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922021-06-011210.3389/fendo.2021.524242524242Case Report: Diabetes in Chinese Bloom SyndromeMingqun DengMiao YuRuizhi JiajueKai FengXinhua XiaoBloom syndrome (BS) is a rare autosomal recessive disorder that causes several endocrine abnormalities. So far, only one BS pedigree, without diabetes, has been reported in the Chinese population. We presented the first case of BS with diabetes in the Chinese population and explored the clinical spectrum associated with endocrine. Possible molecular mechanisms were also investigated. Our study indicated that BS may be one rare cause of diabetes in the Chinese population. We also found a new pathogenic sequence variant in BLM (BLM RecQ like helicase gene)(NM_000057.4) c.692T>G, which may expand the spectrum of BLM variants.https://www.frontiersin.org/articles/10.3389/fendo.2021.524242/fullBloom syndromediabetesshort statureazoospermialeptin |
| spellingShingle | Mingqun Deng Miao Yu Ruizhi Jiajue Kai Feng Xinhua Xiao Case Report: Diabetes in Chinese Bloom Syndrome Frontiers in Endocrinology Bloom syndrome diabetes short stature azoospermia leptin |
| title | Case Report: Diabetes in Chinese Bloom Syndrome |
| title_full | Case Report: Diabetes in Chinese Bloom Syndrome |
| title_fullStr | Case Report: Diabetes in Chinese Bloom Syndrome |
| title_full_unstemmed | Case Report: Diabetes in Chinese Bloom Syndrome |
| title_short | Case Report: Diabetes in Chinese Bloom Syndrome |
| title_sort | case report diabetes in chinese bloom syndrome |
| topic | Bloom syndrome diabetes short stature azoospermia leptin |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2021.524242/full |
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