Multiple familial diseases in a single patient often present with overlapping symptomatology that confers difficulty in delineating a clinical diagnosis. Pedigree analysis has been a long-standing practice in the field of medical genetics to discover familial diseases. In recent years, whole exome sequencing (WES) has proven to be a useful tool for aiding physicians in diagnosing and understanding disease etiology. This report shows that pedigree analysis and WES are co-dependent processes in establishing diagnoses in a family with 4 different genetic disorders: Birt-Hogg-Dubé Syndrome, RRM2B-related mitochondrial disease, CDC73-related primary hyperparathyroidism, and familial prostate cancer.
Hum Hered

中文翻译：

---

外显子组分析时代家族史的重要性：一个患有多种并发遗传病的家庭的报告

单个患者的多种家族性疾病通常具有重叠的症状，这使得难以描述临床诊断。谱系分析一直是医学遗传学领域发现家族性疾病的一项长期实践。近年来，全外显子组测序 (WES) 已被证明是帮助医生诊断和了解疾病病因的有用工具。本报告显示，谱系分析和 WES 是在具有 4 种不同遗传疾病的家族中建立诊断的相互依赖的过程：Birt-Hogg-Dubé 综合征、RRM2B相关的线粒体疾病、CDC73相关的原发性甲状旁腺功能亢进和家族性前列腺癌。
赫瑞德