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

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

doi:10.1159/000519356

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

Hum Hered. 2021;86(1-4):28-33. doi: 10.1159/000519356. Epub 2021 Oct 27.

Authors

Karishma Mahtani¹, Diana Park², Jessica Abbott², Pavalan Panneer Selvam², Paldeep S Atwal²

Affiliations

¹ Genomic and Personalized Medicine, Atwal Clinic, Palm Beach, Florida, USA, [email protected].
² Genomic and Personalized Medicine, Atwal Clinic, Palm Beach, Florida, USA.

PMID: 34706366
DOI: 10.1159/000519356

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.

Keywords: Birt-Hogg-Dubé syndrome; CDC73-related primary hyperparathyroidism; Familial prostate cancer; Family history; Fibrofolliculoma; Oculopharyngeal muscular dystrophy; Ptosis; RRM2B-related mitochondrial disease; Whole exome sequencing.

Publication types

Case Reports

MeSH terms

Birt-Hogg-Dube Syndrome* / genetics
Exome / genetics
Exome Sequencing
Humans
Hyperparathyroidism, Primary*
Male
Pedigree