Next Article in Journal
Reversible Dilated Cardiomyopathy: Into the Thaumaturgy of the Heart—Part 1
Previous Article in Journal
Fabry Disease, a Complex Pathology Not Easy to Diagnose
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
Cardiogenetics
Volume 6
Issue 1
10.4081/cardiogenetics.2016.5818
cardiogenetics-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles thumb_up
...
Endorse textsms
...
Comment
Cardiogenetics is published by MDPI from Volume 10 Issue 2 (2020). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
Article

Genetic Disturbances in Patients with Bodily Isomerism from a Single Center: Clinical Implications of Affected Genes and Potential Impact of Ciliary Dyskinesia

by
Rohit S. Loomba
1,*,
Peter C. Frommelt
1 and
Robert H. Anderson
2
1
Children’s Hospital of Wisconsin/Medical College of Wisconsin, Milwaukee, WI, USA
2
Institute of Genetics, Newcastle Upon Tyne, UK
*
Author to whom correspondence should be addressed.
Cardiogenetics 2016, 6(1), 5818; https://doi.org/10.4081/cardiogenetics.2016.5818
Submission received: 17 February 2016 / Revised: 4 August 2016 / Accepted: 27 August 2016 / Published: 16 September 2016

Abstract

So-called heterotaxy or isomerism is characterized by abnormal lateralization and malformations of the bodily organs. The mechanism is unclear, although there is growing evidence that ciliary dyskinesia is involved. We reviewed genetic findings from patients with isomerism to determine if affected genes were known to be associated with isomerism and ciliary dyskinesia and determine associations between genotype and clinical findings. We identified patients with isomerism cared for over a 16- year period. Characteristics were compared between those with and without identified mutations. A total of 83 patients with isomerism were identified. Of those who had genotyping, 14/27 had mutations identified, most frequently involving the CFC1 and NODAL genes. Specific mutations were associated with clinical findings, with NODAL mutations often portending need for increased clinical support. Genes associated with isomerism and/or ciliary dyskinesia were identified in the cohort. Specific gene mutations may help predict clinical course.
Keywords: CFC1; NODAL; heterotaxy CFC1; NODAL; heterotaxy

Share and Cite

MDPI and ACS Style

Loomba, R.S.; Frommelt, P.C.; Anderson, R.H. Genetic Disturbances in Patients with Bodily Isomerism from a Single Center: Clinical Implications of Affected Genes and Potential Impact of Ciliary Dyskinesia. Cardiogenetics 2016, 6, 5818. https://doi.org/10.4081/cardiogenetics.2016.5818

AMA Style

Loomba RS, Frommelt PC, Anderson RH. Genetic Disturbances in Patients with Bodily Isomerism from a Single Center: Clinical Implications of Affected Genes and Potential Impact of Ciliary Dyskinesia. Cardiogenetics. 2016; 6(1):5818. https://doi.org/10.4081/cardiogenetics.2016.5818

Chicago/Turabian Style

Loomba, Rohit S., Peter C. Frommelt, and Robert H. Anderson. 2016. "Genetic Disturbances in Patients with Bodily Isomerism from a Single Center: Clinical Implications of Affected Genes and Potential Impact of Ciliary Dyskinesia" Cardiogenetics 6, no. 1: 5818. https://doi.org/10.4081/cardiogenetics.2016.5818

APA Style

Loomba, R. S., Frommelt, P. C., & Anderson, R. H. (2016). Genetic Disturbances in Patients with Bodily Isomerism from a Single Center: Clinical Implications of Affected Genes and Potential Impact of Ciliary Dyskinesia. Cardiogenetics, 6(1), 5818. https://doi.org/10.4081/cardiogenetics.2016.5818

Article Metrics

Back to TopTop