Novel Insights from Clinical Practice

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Article / Publication Details

First-Page Preview

Received: January 26, 2021
Accepted: August 30, 2021
Published online: October 27, 2021

Number of Print Pages: 6
Number of Figures: 2
Number of Tables: 0

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

For additional information: https://www.karger.com/HHE

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.

© 2021 S. Karger AG, Basel

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First-Page Preview

Received: January 26, 2021
Accepted: August 30, 2021
Published online: October 27, 2021

Number of Print Pages: 6
Number of Figures: 2
Number of Tables: 0

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

For additional information: https://www.karger.com/HHE

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