Importance of Family History in the Era of Exome Analysis: A Report of a Family with Multiple Concurrent Genetic Diseases.

IF 1.1 4区生物学 Q4 GENETICS & HEREDITY

Human Heredity Pub Date : 2021-01-01 Epub Date: 2021-10-27 DOI:10.1159/000519356

Karishma Mahtani, Diana Park, Jessica Abbott, Pavalan Panneer Selvam, Paldeep S Atwal

引用次数: 0

Abstract

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.

查看原文本刊更多论文

外显子组分析时代家族史的重要性:一个多重并发遗传疾病家族的报告。

一个病人的多种家族性疾病通常表现为重叠的症状，这给临床诊断带来了困难。家谱分析是医学遗传学领域发现家族性疾病的一种长期做法。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在4种不同遗传疾病(birt - hogg - dub综合征、rrm2b相关线粒体疾病、cdc73相关原发性甲状旁腺功能亢进症和家族性前列腺癌)的诊断中是共同依赖的过程。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Human Heredity 生物-遗传学

CiteScore

2.50

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Gathering original research reports and short communications from all over the world, ''Human Heredity'' is devoted to methodological and applied research on the genetics of human populations, association and linkage analysis, genetic mechanisms of disease, and new methods for statistical genetics, for example, analysis of rare variants and results from next generation sequencing. The value of this information to many branches of medicine is shown by the number of citations the journal receives in fields ranging from immunology and hematology to epidemiology and public health planning, and the fact that at least 50% of all ''Human Heredity'' papers are still cited more than 8 years after publication (according to ISI Journal Citation Reports). Special issues on methodological topics (such as ‘Consanguinity and Genomics’ in 2014; ‘Analyzing Rare Variants in Complex Diseases’ in 2012) or reviews of advances in particular fields (‘Genetic Diversity in European Populations: Evolutionary Evidence and Medical Implications’ in 2014; ‘Genes and the Environment in Obesity’ in 2013) are published every year. Renowned experts in the field are invited to contribute to these special issues.