Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China
Background: Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive inherited disease that leads to the maldigestion of disaccharides and is associated with mutation of the sucrase-isomaltase (SI) gene. Cases of CSID are not very prevalent in China or worldwide but are gradually be...
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Frontiers Media S.A.
2021
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oai:doaj.org-article:f3bf4bb256144553994d64457f6f0b662021-12-02T11:46:39ZTwo Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China2296-236010.3389/fped.2021.731716https://doaj.org/article/f3bf4bb256144553994d64457f6f0b662021-12-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fped.2021.731716/fullhttps://doaj.org/toc/2296-2360Background: Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive inherited disease that leads to the maldigestion of disaccharides and is associated with mutation of the sucrase-isomaltase (SI) gene. Cases of CSID are not very prevalent in China or worldwide but are gradually being identified and reported.Case Presentation: We report a case involving a 14-month-old male who presented with failure to thrive that had begun after food diversification and was admitted for chronic diarrhea. We used a whole-exome sequencing (WES) approach to identify mutations in this patient's genome. WES revealed two novel heterozygous mutations in the SI gene, c.2626C > T (p.Q876*) and c.2872C > T (p.R958C), which were confirmed by Sanger DNA sequencing. With a strict sucrose- and starch-restricted diet, the patient's diarrhea was resolved, and he began to gain weight.Conclusions: We report a case of novel variants in the SI gene that caused CSID. This report provides valuable information for the clinical field, especially in China.Jianli ZhouYuzhen ZhaoXia QianYongwei ChengHuabo CaiMoxian ChenShaoming ZhouFrontiers Media S.A.articlecongenitalsucrase-isomaltase deficiencymutationgenecase reportPediatricsRJ1-570ENFrontiers in Pediatrics, Vol 9 (2021) |
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congenital sucrase-isomaltase deficiency mutation gene case report Pediatrics RJ1-570 |
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congenital sucrase-isomaltase deficiency mutation gene case report Pediatrics RJ1-570 Jianli Zhou Yuzhen Zhao Xia Qian Yongwei Cheng Huabo Cai Moxian Chen Shaoming Zhou Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China |
| description |
Background: Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive inherited disease that leads to the maldigestion of disaccharides and is associated with mutation of the sucrase-isomaltase (SI) gene. Cases of CSID are not very prevalent in China or worldwide but are gradually being identified and reported.Case Presentation: We report a case involving a 14-month-old male who presented with failure to thrive that had begun after food diversification and was admitted for chronic diarrhea. We used a whole-exome sequencing (WES) approach to identify mutations in this patient's genome. WES revealed two novel heterozygous mutations in the SI gene, c.2626C > T (p.Q876*) and c.2872C > T (p.R958C), which were confirmed by Sanger DNA sequencing. With a strict sucrose- and starch-restricted diet, the patient's diarrhea was resolved, and he began to gain weight.Conclusions: We report a case of novel variants in the SI gene that caused CSID. This report provides valuable information for the clinical field, especially in China. |
| format |
article |
| author |
Jianli Zhou Yuzhen Zhao Xia Qian Yongwei Cheng Huabo Cai Moxian Chen Shaoming Zhou |
| author_facet |
Jianli Zhou Yuzhen Zhao Xia Qian Yongwei Cheng Huabo Cai Moxian Chen Shaoming Zhou |
| author_sort |
Jianli Zhou |
| title |
Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China |
| title_short |
Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China |
| title_full |
Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China |
| title_fullStr |
Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China |
| title_full_unstemmed |
Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China |
| title_sort |
two novel mutations in the si gene associated with congenital sucrase-isomaltase deficiency: a case report in china |
| publisher |
Frontiers Media S.A. |
| publishDate |
2021 |
| url |
https://doaj.org/article/f3bf4bb256144553994d64457f6f0b66 |
| work_keys_str_mv |
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