Whole-Exome Sequencing as a Diagnostic Tool in a Family With Episodic Ataxia Type 1

Pawel Tacik, Kimberly J. Guthrie, Audrey J. Strongosky, Daniel F. Broderick, Douglas L. Riegert-Johnson, Sha Tang, Dima El-Khechen, Alexander Parker, Owen A Ross, Zbigniew K Wszolek

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Complex neurologic phenotypes are inherently difficult to diagnose. Whole-exome sequencing (WES) is a new tool in the neurologist's diagnostic armamentarium. Whole-exome sequencing can be applied to investigate the "diagnostic odyssey" cases. These cases involve patients with rare diseases that likely have a genetic etiology but have failed to be diagnosed by clinical evaluation and targeted gene testing. We describe such a case, a 22-year-old man who had mild intellectual developmental disability and episodes of jerking ataxic movements that affected his whole body. He underwent numerous multidisciplinary and multicentric evaluations throughout his life that failed to establish a clear diagnosis. Following his visit to Mayo Clinic in Jacksonville, Florida, WES was applied for genetic determination of the unknown disorder in the proband and his biological parents and sister. Additional clinical evaluation, magnetic resonance neuroimaging, electromyography, and electroencephalography of the proband were performed to verify the phenotype after the WES results were available. To our knowledge, this is the first report of the application of WES to facilitate the diagnosis of episodic ataxia type 1. This case illustrates that WES supported by clinical data is a useful and time-saving tool in the evaluation of patients with rare and complex hereditary disorders.

Original languageEnglish (US)
JournalMayo Clinic Proceedings
Volume90
Issue number3
DOIs
StatePublished - Mar 1 2015

Fingerprint

Exome
Phenotype
Developmental Disabilities
Electromyography
Rare Diseases
Neuroimaging
Intellectual Disability
Nervous System
Type 1 Episodic Ataxia
Siblings
Electroencephalography
Magnetic Resonance Spectroscopy
Parents
Genes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Tacik, P., Guthrie, K. J., Strongosky, A. J., Broderick, D. F., Riegert-Johnson, D. L., Tang, S., ... Wszolek, Z. K. (2015). Whole-Exome Sequencing as a Diagnostic Tool in a Family With Episodic Ataxia Type 1. Mayo Clinic Proceedings, 90(3). https://doi.org/10.1016/j.mayocp.2015.01.001

Whole-Exome Sequencing as a Diagnostic Tool in a Family With Episodic Ataxia Type 1. / Tacik, Pawel; Guthrie, Kimberly J.; Strongosky, Audrey J.; Broderick, Daniel F.; Riegert-Johnson, Douglas L.; Tang, Sha; El-Khechen, Dima; Parker, Alexander; Ross, Owen A; Wszolek, Zbigniew K.

In: Mayo Clinic Proceedings, Vol. 90, No. 3, 01.03.2015.

Research output: Contribution to journalArticle

Tacik, P, Guthrie, KJ, Strongosky, AJ, Broderick, DF, Riegert-Johnson, DL, Tang, S, El-Khechen, D, Parker, A, Ross, OA & Wszolek, ZK 2015, 'Whole-Exome Sequencing as a Diagnostic Tool in a Family With Episodic Ataxia Type 1', Mayo Clinic Proceedings, vol. 90, no. 3. https://doi.org/10.1016/j.mayocp.2015.01.001
Tacik P, Guthrie KJ, Strongosky AJ, Broderick DF, Riegert-Johnson DL, Tang S et al. Whole-Exome Sequencing as a Diagnostic Tool in a Family With Episodic Ataxia Type 1. Mayo Clinic Proceedings. 2015 Mar 1;90(3). https://doi.org/10.1016/j.mayocp.2015.01.001
Tacik, Pawel ; Guthrie, Kimberly J. ; Strongosky, Audrey J. ; Broderick, Daniel F. ; Riegert-Johnson, Douglas L. ; Tang, Sha ; El-Khechen, Dima ; Parker, Alexander ; Ross, Owen A ; Wszolek, Zbigniew K. / Whole-Exome Sequencing as a Diagnostic Tool in a Family With Episodic Ataxia Type 1. In: Mayo Clinic Proceedings. 2015 ; Vol. 90, No. 3.
@article{49eb969fbf844bceaa16481af8de2a11,
title = "Whole-Exome Sequencing as a Diagnostic Tool in a Family With Episodic Ataxia Type 1",
abstract = "Complex neurologic phenotypes are inherently difficult to diagnose. Whole-exome sequencing (WES) is a new tool in the neurologist's diagnostic armamentarium. Whole-exome sequencing can be applied to investigate the {"}diagnostic odyssey{"} cases. These cases involve patients with rare diseases that likely have a genetic etiology but have failed to be diagnosed by clinical evaluation and targeted gene testing. We describe such a case, a 22-year-old man who had mild intellectual developmental disability and episodes of jerking ataxic movements that affected his whole body. He underwent numerous multidisciplinary and multicentric evaluations throughout his life that failed to establish a clear diagnosis. Following his visit to Mayo Clinic in Jacksonville, Florida, WES was applied for genetic determination of the unknown disorder in the proband and his biological parents and sister. Additional clinical evaluation, magnetic resonance neuroimaging, electromyography, and electroencephalography of the proband were performed to verify the phenotype after the WES results were available. To our knowledge, this is the first report of the application of WES to facilitate the diagnosis of episodic ataxia type 1. This case illustrates that WES supported by clinical data is a useful and time-saving tool in the evaluation of patients with rare and complex hereditary disorders.",
author = "Pawel Tacik and Guthrie, {Kimberly J.} and Strongosky, {Audrey J.} and Broderick, {Daniel F.} and Riegert-Johnson, {Douglas L.} and Sha Tang and Dima El-Khechen and Alexander Parker and Ross, {Owen A} and Wszolek, {Zbigniew K}",
year = "2015",
month = "3",
day = "1",
doi = "10.1016/j.mayocp.2015.01.001",
language = "English (US)",
volume = "90",
journal = "Mayo Clinic Proceedings",
issn = "0025-6196",
publisher = "Elsevier Science",
number = "3",

}

TY - JOUR

T1 - Whole-Exome Sequencing as a Diagnostic Tool in a Family With Episodic Ataxia Type 1

AU - Tacik, Pawel

AU - Guthrie, Kimberly J.

AU - Strongosky, Audrey J.

AU - Broderick, Daniel F.

AU - Riegert-Johnson, Douglas L.

AU - Tang, Sha

AU - El-Khechen, Dima

AU - Parker, Alexander

AU - Ross, Owen A

AU - Wszolek, Zbigniew K

PY - 2015/3/1

Y1 - 2015/3/1

N2 - Complex neurologic phenotypes are inherently difficult to diagnose. Whole-exome sequencing (WES) is a new tool in the neurologist's diagnostic armamentarium. Whole-exome sequencing can be applied to investigate the "diagnostic odyssey" cases. These cases involve patients with rare diseases that likely have a genetic etiology but have failed to be diagnosed by clinical evaluation and targeted gene testing. We describe such a case, a 22-year-old man who had mild intellectual developmental disability and episodes of jerking ataxic movements that affected his whole body. He underwent numerous multidisciplinary and multicentric evaluations throughout his life that failed to establish a clear diagnosis. Following his visit to Mayo Clinic in Jacksonville, Florida, WES was applied for genetic determination of the unknown disorder in the proband and his biological parents and sister. Additional clinical evaluation, magnetic resonance neuroimaging, electromyography, and electroencephalography of the proband were performed to verify the phenotype after the WES results were available. To our knowledge, this is the first report of the application of WES to facilitate the diagnosis of episodic ataxia type 1. This case illustrates that WES supported by clinical data is a useful and time-saving tool in the evaluation of patients with rare and complex hereditary disorders.

AB - Complex neurologic phenotypes are inherently difficult to diagnose. Whole-exome sequencing (WES) is a new tool in the neurologist's diagnostic armamentarium. Whole-exome sequencing can be applied to investigate the "diagnostic odyssey" cases. These cases involve patients with rare diseases that likely have a genetic etiology but have failed to be diagnosed by clinical evaluation and targeted gene testing. We describe such a case, a 22-year-old man who had mild intellectual developmental disability and episodes of jerking ataxic movements that affected his whole body. He underwent numerous multidisciplinary and multicentric evaluations throughout his life that failed to establish a clear diagnosis. Following his visit to Mayo Clinic in Jacksonville, Florida, WES was applied for genetic determination of the unknown disorder in the proband and his biological parents and sister. Additional clinical evaluation, magnetic resonance neuroimaging, electromyography, and electroencephalography of the proband were performed to verify the phenotype after the WES results were available. To our knowledge, this is the first report of the application of WES to facilitate the diagnosis of episodic ataxia type 1. This case illustrates that WES supported by clinical data is a useful and time-saving tool in the evaluation of patients with rare and complex hereditary disorders.

UR - http://www.scopus.com/inward/record.url?scp=84961290935&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84961290935&partnerID=8YFLogxK

U2 - 10.1016/j.mayocp.2015.01.001

DO - 10.1016/j.mayocp.2015.01.001

M3 - Article

C2 - 25659636

AN - SCOPUS:84961290935

VL - 90

JO - Mayo Clinic Proceedings

JF - Mayo Clinic Proceedings

SN - 0025-6196

IS - 3

ER -