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Cardiogenetics
Volume 10
Issue 1
10.4081/cardiogenetics.2020.9193
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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.
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Case Report

Inherited Interstitial Deletion of 3p22.3—p23 Involving GPD1L Gene

by
Hoang H. Nguyen
*,
Krishna Kishore Umapathi
,
Richard Dineen
,
Raymond Morales
and
Mindy H. Li
Department of Pediatrics, Rush University Medical Center, Chicago, IL 60612, USA
*
Author to whom correspondence should be addressed.
Cardiogenetics 2020, 10(1), 9193; https://doi.org/10.4081/cardiogenetics.2020.9193
Submission received: 18 June 2020 / Revised: 19 August 2020 / Accepted: 10 September 2020 / Published: 30 September 2020

Abstract

We report the first case of a 294 kb loss, notable for including the entirety of GPD1L, on chromosome 3p22.3—p24 in a 3-year-old girl with multiple congenital anomalies including absent left foot, single umbilical artery, bilateral vesico-ureteral reflux, rectovaginal fistula, and imperforate anus. Although GPD1L mutations have been associated with cardiac arrhythmias, including Brugada syndrome and sudden unexpected infant death syndrome, full deletions in the GPD1L gene have not been reported neither the patient nor her mother, who was later identified to carry the variant, have any signs or symptoms of Brugada syndrome. This may indicate these individuals have findings that have not yet been identified, full gene deletions of GDP1L are not necessarily disease causing, or there is incomplete penetrance of this gene or cardiac manifestations can occur at a later age.
Keywords: 3p deletion; GPD1L gene; Brugada syndrome 3p deletion; GPD1L gene; Brugada syndrome

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MDPI and ACS Style

Nguyen, H.H.; Umapathi, K.K.; Dineen, R.; Morales, R.; Li, M.H. Inherited Interstitial Deletion of 3p22.3—p23 Involving GPD1L Gene. Cardiogenetics 2020, 10, 9193. https://doi.org/10.4081/cardiogenetics.2020.9193

AMA Style

Nguyen HH, Umapathi KK, Dineen R, Morales R, Li MH. Inherited Interstitial Deletion of 3p22.3—p23 Involving GPD1L Gene. Cardiogenetics. 2020; 10(1):9193. https://doi.org/10.4081/cardiogenetics.2020.9193

Chicago/Turabian Style

Nguyen, Hoang H., Krishna Kishore Umapathi, Richard Dineen, Raymond Morales, and Mindy H. Li. 2020. "Inherited Interstitial Deletion of 3p22.3—p23 Involving GPD1L Gene" Cardiogenetics 10, no. 1: 9193. https://doi.org/10.4081/cardiogenetics.2020.9193

APA Style

Nguyen, H. H., Umapathi, K. K., Dineen, R., Morales, R., & Li, M. H. (2020). Inherited Interstitial Deletion of 3p22.3—p23 Involving GPD1L Gene. Cardiogenetics, 10(1), 9193. https://doi.org/10.4081/cardiogenetics.2020.9193

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