Whole exome sequencing now provides a tool for rapid analysis of patients manifesting congenital diseases. Congenital diarrheal diseases provide a critical example of the challenges of combining identification of genetic mutations responsible for disease with characterization of the cell biological and cell physiological deficits observed in patients. Recent studies exploring the cellular events associated with loss of functional Myosin 5B (MYO5B) have demonstrated the importance of cell biological and physiological analyses to provide a greater understanding of the implications of pathological mutations. Development of enteroids derived from biopsies of patients with complex congenital diarrheal diseases provides a critical resource for evaluation of the cell biological impact of specific monogenic mutations on enterocyte function. The ability to identify putative causative mutations for congenital disease now provides an opportunity to coordinate the efforts of physicians and cell biologists in an effort to provide patients with personalized cell biology analysis to improve patient diagnosis and treatment.

中文翻译：

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个性化细胞生物学的挑战：以微绒毛包涵体病为例。

现在，全外显子组测序为快速分析先天性疾病患者提供了一种工具。先天性腹泻病提供了一个重要的例子，说明了将导致疾病的基因突变的鉴定与在患者中观察到的细胞生物学和细胞生理缺陷的表征相结合的挑战。最近探索与功能性肌球蛋白 5B (MYO5B) 丧失相关的细胞事件的研究证明了细胞生物学和生理分析的重要性，以更好地理解病理突变的影响。从患有复杂先天性腹泻疾病的患者的活检中提取肠类物质的开发为评估特定单基因突变对肠细胞功能的细胞生物学影响提供了关键资源。