Pournami Femitha, Mk Alok Kumar, Panackal Anila V, Nandakumar Anand, Prabhakar Jyothi, Jain Naveen
Department of Neonatology, Kerala Institute of Medical Sciences, Trivandrum, Kerala, India.
J Pediatr Genet. 2020 Aug 31;11(2):154-157. doi: 10.1055/s-0040-1716401. eCollection 2022 Jun.
Inherited diarrheal disorders cause serious morbidity resulting in dependence on intensive care and parenteral nutrition. Microvillus inclusion disease (MVID) has been classically described and results from mutations in the gene coding myosin Vb, which is responsible for enterocyte polarization. Newer reports of mutations resulting in truncated syntaxin 3 (STX3) and Munc18-2 (STXBP2) proteins have been elucidated as causative. To date, five cases of STX3 abnormalities resulting in MVID have been described. We report an infant who presented with congenital diarrhea and was determined to have a rare mutation of STX3. This new finding would be beneficial in future functional genotype-phenotype correlation studies.
遗传性腹泻疾病会导致严重的发病情况，进而依赖重症监护和肠外营养。微绒毛包涵体病（MVID）一直有经典描述，它是由编码肌球蛋白Vb的基因突变引起的，该基因负责肠上皮细胞极化。导致Syntaxin 3（STX3）和Munc18 - 2（STXBP2）蛋白截短的新突变报告已被阐明为病因。迄今为止，已有5例因STX3异常导致MVID的病例被描述。我们报告了一名患有先天性腹泻的婴儿，经诊断患有罕见的STX3突变。这一新发现将有助于未来的功能基因型 - 表型相关性研究。
