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NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders

机译：NGS基因面板分析揭示了罕见的先天性腹泻病患者患者的新突变

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Congenital diarrheal disorders (CDDs) are early-onset enteropathies generally inherited as autosomal recessive traits. Most patients with CDDs require rapid diagnosis as they need immediate and specific therapy to avoid a poor prognosis, but their clinical picture is often overlapping with a myriad of nongenetic diarrheal diseases. We developed a next-generation sequencing (NGS) panel for the analysis of 92 CDD-related genes, by which we analyzed patients suspect for CDD, among which were (i) three patients with sucrose-isomaltase deficiency; (ii) four patients with microvillous inclusion disease; (iii) five patients with congenital tufting enteropathy; (iv) eight patients with glucose-galactose malabsorption; (v) five patients with congenital chloride diarrhea. In all cases, we identified the mutations in the disease-gene, among which were several novel mutations for which we defined pathogenicity using a combination of bioinformatic tools. Although CDDs are rare, all together, they have an incidence of about 1%. Considering that the clinical picture of these disorders is often confusing, a CDD-related multigene NGS panel contributes to unequivocal and rapid diagnosis, which also reduces the need for invasive procedures.
机译：先天性腹泻障碍（CDDs）是早熟的肠病，通常是常染色体隐性性状的。大多数CDD患者需要快速诊断，因为它们需要即时和特异性的治疗，以避免预后差，但他们的临床影像通常与无数的NongeniTic腹泻疾病重叠。我们开发了92 CDD相关的基因，使我们分析的患者怀疑为CDD，分析新一代测序（NGS）面板其中为：（i）3例蔗糖异麦芽糖酶缺乏症; （ii）四种微毛囊包涵体患者; （III）五名先天性簇生肠病; （iv）8例葡萄糖 - 半乳糖吸收患者; （v）五患者先天性氯化物腹泻。在所有情况下，我们鉴定了疾病 - 基因中的突变，其中是使用生物信息工具的组合定义致病性的几种新突变。虽然CDD很少见，但它们的发病率约为1％。考虑到这些疾病的临床图像往往混淆，CDD相关的多烯NGS面板有助于明确和快速的诊断，这也降低了对侵入性程序的需求。

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