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

doi:10.1159/000488820

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

Título traducido de la contribución: Identificación de un nuevo lugar candidato para la anomalía de Ebstein

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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6 Citas (Scopus)

Resumen

La anomalía de Ebstein (EA) es un defecto cardíaco congénito (CHD) poco frecuente con una etiología genética mal caracterizada. Sin embargo, algunos pacientes con EA presentan deleciones en 1p36, todos los cuales han sido reportados como portadores de deleciones distales y pérdida compartida del gen PRDM16, que actualmente se considera el candidato más probable para el desarrollo de EA en esta región. Aquí se reporta un paciente con una deleción proximal de 1p36 de 11.96-Mb, sin pérdida de PRDM16, que se presentó con EA y un fenotipo de deleción proximal. Este hallazgo sugiere que la pérdida de PRDM16 no es necesaria para el desarrollo de EA en las deleciones de 1p36 y que la pérdida de un locus proximal adicional en 1p36 también está probablemente asociada con EA. Nuestros datos sugieren que un locus distal que contiene el gen SKI y un locus proximal que contiene los genes asociados a CHD RERE y UBE4B son los factores etiológicos más probables para la EA en pacientes con síndrome de deleción 1p36.

Título traducido de la contribución	Identificación de un nuevo lugar candidato para la anomalía de Ebstein
Idioma original	Inglés estadounidense
Páginas (desde-hasta)	164-169
Número de páginas	6
Publicación	Molecular Syndromology
Volumen	9
N.º	3
DOI	https://doi.org/10.1159/000488820
Estado	Publicada - may. 2018

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@article{d412df4a0e564a11b2bb82bafdc5be53,

title = "Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2",

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.",

author = "Marta-Catalina Miranda-Fern{\'a}ndez and Silvia Ram{\'i}rez-Oyaga and Restrepo, {Carlos M} and Victor-Manuel Huertas-Qui{\~n}ones and Magally Barrera-Casta{\~n}eda and Rossi Quero and Camilo-Jos{\'e} Hern{\'a}ndez-Toro and {Tamar Silva}, Claudia and Paul Laissue and Rodrigo Cabrera",

year = "2018",

month = may,

doi = "10.1159/000488820",

language = "English (US)",

volume = "9",

pages = "164--169",

journal = "Molecular Syndromology",

issn = "1661-8769",

publisher = "S. Karger AG",

number = "3",

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TY - JOUR

T1 - Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2

AU - Miranda-Fernández, Marta-Catalina

AU - Ramírez-Oyaga, Silvia

AU - Restrepo, Carlos M

AU - Huertas-Quiñones, Victor-Manuel

AU - Barrera-Castañeda, Magally

AU - Quero, Rossi

AU - Hernández-Toro, Camilo-José

AU - Tamar Silva, Claudia

AU - Laissue, Paul

AU - Cabrera, Rodrigo

PY - 2018/5

Y1 - 2018/5

N2 - 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.

AB - 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.

U2 - 10.1159/000488820

DO - 10.1159/000488820

M3 - Article

C2 - 29928183

SN - 1661-8769

VL - 9

SP - 164

EP - 169

JO - Molecular Syndromology

JF - Molecular Syndromology

IS - 3

ER -

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

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