Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China
Autor: | Huabo Cai, Xia Qian, Jianli Zhou, Yongwei Cheng, Yu-Zhen Zhao, Mo-Xian Chen, Shaoming Zhou |
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Jazyk: | angličtina |
Rok vydání: | 2021 |
Předmět: |
Genetics
Sanger sequencing Mutation business.industry congenital Congenital Sucrase-Isomaltase Deficiency medicine.disease_cause Genome Pediatrics RJ1-570 sucrase-isomaltase deficiency symbols.namesake Pediatrics Perinatology and Child Health Failure to thrive medicine symbols case report Inherited disease medicine.symptom mutation business gene Gene Exome sequencing |
Zdroj: | Frontiers in Pediatrics, Vol 9 (2021) Frontiers in Pediatrics |
ISSN: | 2296-2360 |
Popis: | 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. |
Databáze: | OpenAIRE |
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