Targeting Neuroplasticity, Cardiovascular, and Cognitive-Associated Genomic Variants in Familial Alzheimer's Disease

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

Resultado de la investigación: Contribución a RevistaArtículo

Resumen

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.
Idioma originalEnglish
Número de artículo 10.1159/000488820.
Páginas (desde-hasta)164
Número de páginas169
PublicaciónMolecular Syndromology
Volumen9
N.º3
EstadoPublished - may 15 2018

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Miranda-Fernández, M-C., Ramírez-Oyaga, S., Restrepo Fernandez, C. M., Huertas-Quiñones, V-M., Barrera-Castañeda, M., Quero, R., ... Cabrera, R. (2018). Targeting Neuroplasticity, Cardiovascular, and Cognitive-Associated Genomic Variants in Familial Alzheimer's Disease. Molecular Syndromology, 9(3), 164. [ 10.1159/000488820.].
Miranda-Fernández, Marta-Catalina ; Ramírez-Oyaga, Silvia ; Restrepo Fernandez, Carlos Martin ; Huertas-Quiñones, Victor-Manuel ; Barrera-Castañeda, Magally ; Quero, Rossi ; Hernández-Toro, Camilo-José ; Silva Aldana, Claudia Tamar ; Laissue Hormaza, Paul ; Cabrera, Rodrigo. / Targeting Neuroplasticity, Cardiovascular, and Cognitive-Associated Genomic Variants in Familial Alzheimer's Disease. En: Molecular Syndromology. 2018 ; Vol. 9, N.º 3. pp. 164.
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title = "Targeting Neuroplasticity, Cardiovascular, and Cognitive-Associated Genomic Variants in Familial Alzheimer's Disease",
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 Fernandez}, {Carlos Martin} 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 {Silva Aldana}, {Claudia Tamar} and {Laissue Hormaza}, Paul and Rodrigo Cabrera",
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Miranda-Fernández, M-C, Ramírez-Oyaga, S, Restrepo Fernandez, CM, Huertas-Quiñones, V-M, Barrera-Castañeda, M, Quero, R, Hernández-Toro, C-J, Silva Aldana, CT, Laissue Hormaza, P & Cabrera, R 2018, 'Targeting Neuroplasticity, Cardiovascular, and Cognitive-Associated Genomic Variants in Familial Alzheimer's Disease', Molecular Syndromology, vol. 9, n.º 3, 10.1159/000488820., pp. 164.

Targeting Neuroplasticity, Cardiovascular, and Cognitive-Associated Genomic Variants in Familial Alzheimer's Disease. / Miranda-Fernández, Marta-Catalina; Ramírez-Oyaga, Silvia; Restrepo Fernandez, Carlos Martin; Huertas-Quiñones, Victor-Manuel; Barrera-Castañeda, Magally; Quero, Rossi; Hernández-Toro, Camilo-José; Silva Aldana, Claudia Tamar; Laissue Hormaza, Paul; Cabrera, Rodrigo.

En: Molecular Syndromology, Vol. 9, N.º 3, 10.1159/000488820., 15.05.2018, p. 164.

Resultado de la investigación: Contribución a RevistaArtículo

TY - JOUR

T1 - Targeting Neuroplasticity, Cardiovascular, and Cognitive-Associated Genomic Variants in Familial Alzheimer's Disease

AU - Miranda-Fernández, Marta-Catalina

AU - Ramírez-Oyaga, Silvia

AU - Restrepo Fernandez, Carlos Martin

AU - Huertas-Quiñones, Victor-Manuel

AU - Barrera-Castañeda, Magally

AU - Quero, Rossi

AU - Hernández-Toro, Camilo-José

AU - Silva Aldana, Claudia Tamar

AU - Laissue Hormaza, Paul

AU - Cabrera, Rodrigo

PY - 2018/5/15

Y1 - 2018/5/15

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.

M3 - Artículo

VL - 9

SP - 164

JO - Molecular Syndromology

JF - Molecular Syndromology

SN - 1661-8769

IS - 3

M1 - 10.1159/000488820.

ER -

Miranda-Fernández M-C, Ramírez-Oyaga S, Restrepo Fernandez CM, Huertas-Quiñones V-M, Barrera-Castañeda M, Quero R y otros. Targeting Neuroplasticity, Cardiovascular, and Cognitive-Associated Genomic Variants in Familial Alzheimer's Disease. Molecular Syndromology. 2018 may 15;9(3):164. 10.1159/000488820.