Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2

Marta-Catalina Miranda-Fernández, Silvia Ramírez-Oyaga, Carlos M Restrepo, Victor-Manuel Huertas-Quiñones, Magally Barrera-Castañeda, Rossi Quero, Camilo-José Hernández-Toro, Claudia Tamar Silva, Paul Laissue, Rodrigo Cabrera

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Abstract

Ebstein anomaly (EA) is a rare congenital heart defect (CHD) with a poorly characterized genetic etiology. However, some EA patients carry deletions in 1p36, all of which have been reported to carry distal deletions and share loss of the PRDM16 gene, which is currently considered the most likely candidate for EA development in this region. Here, we report a patient with an 11.96-Mb proximal 1p36 deletion, without loss of PRDM16, who presented with EA and a proximal deletion phenotype. This finding suggests that PRDM16 loss is not required for the development of EA in 1p36 deletions and that the loss of an additional proximal locus in 1p36 is also likely associated with EA. Our data suggest that a distal locus containing the SKI gene and a proximal locus containing the CHD-associated genes RERE and UBE4B are the most probable etiological factors for EA in patients with 1p36 deletion syndrome.

Translated title of the contributionIdentificación de un nuevo lugar candidato para la anomalía de Ebstein
Original languageEnglish (US)
Pages (from-to)164-169
Number of pages6
JournalMolecular Syndromology
Volume9
Issue number3
DOIs
StatePublished - May 2018

Cite this

Miranda-Fernández, M-C., Ramírez-Oyaga, S., Restrepo, C. M., Huertas-Quiñones, V-M., Barrera-Castañeda, M., Quero, R., Hernández-Toro, C-J., Tamar Silva, C., Laissue, P., & Cabrera, R. (2018). Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2. Molecular Syndromology, 9(3), 164-169. https://doi.org/10.1159/000488820