Inherited interstitial deletion of 3p22.3—p23 involving GPD1L gene

  • Hoang H. Nguyen | hoang_nguyen@rush.edu Department of Pediatrics, Rush University Medical Center, Chicago IL, United States.
  • Krishna Kishore Umapathi Department of Pediatrics, Rush University Medical Center, Chicago IL, United States.
  • Richard Dineen Department of Pediatrics, Rush University Medical Center, Chicago IL, United States.
  • Raymond Morales Department of Pediatrics, Rush University Medical Center, Chicago IL, United States.
  • Mindy H. Li Department of Pediatrics, Rush University Medical Center, Chicago IL, United States.

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.

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Published
2020-09-30
Info
Issue
Section
Clinical and Experimental Cases/Hypothesis
Keywords:
3p deletion, GPD1L gene, Brugada syndrome.
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How to Cite
Nguyen, H. H., Umapathi, K. K., Dineen, R., Morales, R., & Li, M. H. (2020). Inherited interstitial deletion of 3p22.3—p23 involving <em>GPD1L</em&gt; gene. Cardiogenetics, 10(1). https://doi.org/10.4081/cardiogenetics.2020.9193