CITED2 mutations potentially cause idiopathic premature ovarian failure

Dora Janeth Fonseca; Diego Ojeda; Besma Lakhal; Rim Braham; Stefanie Eggers; Erin Turbitt; Stefan White; Sonia Grover; Garry Warne; Margaret Zacharin; Alexandra Nevin Lam; Hanène Landolsi; Hatem Elghezal; Ali Saâd; Carlos Martín Restrepo; Marc Fellous; Andrew Sinclair; Peter Koopman; Paul Laissue

doi:10.1016/j.trsl.2012.05.006

CITED2 mutations potentially cause idiopathic premature ovarian failure

Título traducido de la contribución: Las mutaciones en CITED2 pueden causar fallo ovárico prematuro idiopático

Dora Janeth Fonseca
, Diego Ojeda
, Besma Lakhal
, Rim Braham
, Stefanie Eggers
, Erin Turbitt
, Stefan White
, Sonia Grover
, Garry Warne
, Margaret Zacharin
, Alexandra Nevin Lam
, Hanène Landolsi
, Hatem Elghezal
, Ali Saâd
, Carlos Martín Restrepo
, Marc Fellous
, Andrew Sinclair
, Peter Koopman
, Paul Laissue

Producción científica: Contribución a revista › Artículo de Investigación › revisión exhaustiva

16 Citas (Scopus)

Resumen

Recientemente se han descrito anomalías en el desarrollo gonadal en un modelo de ratón knockout de Cited2. En las gónadas femeninas Cited2 -/-, se observó una migración celular ectópica y el programa femenino de determinación del sexo se retrasó transitoriamente. Nuestra hipótesis es que, en humanos, esta inhibición temporal de genes debería ser suficiente para provocar un deterioro del desarrollo de las gónadas femeninas, conducente a un fallo ovárico prematuro (FOP). Para establecer si las mutaciones en CITED2 son una causa común de la enfermedad, realizamos un análisis mutacional de este gen en un panel de pacientes con POF y en un grupo de mujeres control con fertilidad normal. Amplificamos y secuenciamos directamente el marco de lectura abierto completo de CITED2 en 139 pacientes con POF y 290 controles. Este estudio reveló 5 variantes sinónimas y 3 no sinónimas. Entre ellas, 7 son nuevas. La variante no sinónima c.604C>A (p.Pro202Thr) se encontró únicamente en 1 mujer del grupo de POF. El análisis in silico de esta mutación indicó un posible efecto deletéreo. Concluimos que las mutaciones en CITED2 pueden estar implicadas en la patogénesis de POF.

Título traducido de la contribución	Las mutaciones en CITED2 pueden causar fallo ovárico prematuro idiopático
Idioma original	Inglés estadounidense
Páginas (desde-hasta)	384-388
Número de páginas	5
Publicación	Translational Research
Volumen	160
N.º	5
DOI	https://doi.org/10.1016/j.trsl.2012.05.006
Estado	Publicada - nov. 1 2012

ODS de las Naciones Unidas

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ODS 3: Salud y bienestar

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Genética (clínica)

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Fonseca, D. J., Ojeda, D., Lakhal, B., Braham, R., Eggers, S., Turbitt, E., White, S., Grover, S., Warne, G., Zacharin, M., Nevin Lam, A., Landolsi, H., Elghezal, H., Saâd, A., Restrepo, C. M., Fellous, M., Sinclair, A., Koopman, P., & Laissue, P. (2012). CITED2 mutations potentially cause idiopathic premature ovarian failure. Translational Research, 160(5), 384-388. https://doi.org/10.1016/j.trsl.2012.05.006

@article{64543068b5f44458a0aaed791ce2c082,

title = "CITED2 mutations potentially cause idiopathic premature ovarian failure",

abstract = "Anomalies in gonadal development in a mouse knockout model of Cited2 have been recently described. In Cited2 -/- female gonads, an ectopic cell migration was observed and the female program of sex determination was transiently delayed. We hypothesize that, in humans, this temporary inhibition of genes should be sufficient to provoke a developmental impairment of the female gonads, conducive to premature ovarian failure (POF). To establish whether CITED2 mutations are a common cause of the disease, we performed a mutational analysis of this gene in a panel of patients with POF and in a group of control women with normal fertility. We amplified and directly sequenced the complete open reading frame of CITED2 in 139 patients with POF and 290 controls. This study revealed 5 synonymous and 3 nonsynonymous variants. Among these, 7 are novel. The nonsynonymous variant c.604C>A (p.Pro202Thr) was found uniquely in 1 woman from the POF group. In silico analysis of this mutation indicated a potential deleterious effect. We conclude that mutations in CITED2 may be involved in POF pathogenesis. {\textcopyright} 2012 Mosby, Inc. All rights reserved.",

author = "Fonseca, \{Dora Janeth\} and Diego Ojeda and Besma Lakhal and Rim Braham and Stefanie Eggers and Erin Turbitt and Stefan White and Sonia Grover and Garry Warne and Margaret Zacharin and \{Nevin Lam\}, Alexandra and Han{\`e}ne Landolsi and Hatem Elghezal and Ali Sa{\^a}d and Restrepo, \{Carlos Mart{\'i}n\} and Marc Fellous and Andrew Sinclair and Peter Koopman and Paul Laissue",

year = "2012",

month = nov,

day = "1",

doi = "10.1016/j.trsl.2012.05.006",

language = "English (US)",

volume = "160",

pages = "384--388",

journal = "Translational Research",

issn = "1931-5244",

publisher = "Elsevier Inc.",

number = "5",

}

Fonseca, DJ, Ojeda, D, Lakhal, B, Braham, R, Eggers, S, Turbitt, E, White, S, Grover, S, Warne, G, Zacharin, M, Nevin Lam, A, Landolsi, H, Elghezal, H, Saâd, A, Restrepo, CM, Fellous, M, Sinclair, A, Koopman, P & Laissue, P 2012, 'CITED2 mutations potentially cause idiopathic premature ovarian failure', Translational Research, vol. 160, n.º 5, pp. 384-388. https://doi.org/10.1016/j.trsl.2012.05.006

TY - JOUR

T1 - CITED2 mutations potentially cause idiopathic premature ovarian failure

AU - Fonseca, Dora Janeth

AU - Ojeda, Diego

AU - Lakhal, Besma

AU - Braham, Rim

AU - Eggers, Stefanie

AU - Turbitt, Erin

AU - White, Stefan

AU - Grover, Sonia

AU - Warne, Garry

AU - Zacharin, Margaret

AU - Nevin Lam, Alexandra

AU - Landolsi, Hanène

AU - Elghezal, Hatem

AU - Saâd, Ali

AU - Restrepo, Carlos Martín

AU - Fellous, Marc

AU - Sinclair, Andrew

AU - Koopman, Peter

AU - Laissue, Paul

PY - 2012/11/1

Y1 - 2012/11/1

N2 - Anomalies in gonadal development in a mouse knockout model of Cited2 have been recently described. In Cited2 -/- female gonads, an ectopic cell migration was observed and the female program of sex determination was transiently delayed. We hypothesize that, in humans, this temporary inhibition of genes should be sufficient to provoke a developmental impairment of the female gonads, conducive to premature ovarian failure (POF). To establish whether CITED2 mutations are a common cause of the disease, we performed a mutational analysis of this gene in a panel of patients with POF and in a group of control women with normal fertility. We amplified and directly sequenced the complete open reading frame of CITED2 in 139 patients with POF and 290 controls. This study revealed 5 synonymous and 3 nonsynonymous variants. Among these, 7 are novel. The nonsynonymous variant c.604C>A (p.Pro202Thr) was found uniquely in 1 woman from the POF group. In silico analysis of this mutation indicated a potential deleterious effect. We conclude that mutations in CITED2 may be involved in POF pathogenesis. © 2012 Mosby, Inc. All rights reserved.

AB - Anomalies in gonadal development in a mouse knockout model of Cited2 have been recently described. In Cited2 -/- female gonads, an ectopic cell migration was observed and the female program of sex determination was transiently delayed. We hypothesize that, in humans, this temporary inhibition of genes should be sufficient to provoke a developmental impairment of the female gonads, conducive to premature ovarian failure (POF). To establish whether CITED2 mutations are a common cause of the disease, we performed a mutational analysis of this gene in a panel of patients with POF and in a group of control women with normal fertility. We amplified and directly sequenced the complete open reading frame of CITED2 in 139 patients with POF and 290 controls. This study revealed 5 synonymous and 3 nonsynonymous variants. Among these, 7 are novel. The nonsynonymous variant c.604C>A (p.Pro202Thr) was found uniquely in 1 woman from the POF group. In silico analysis of this mutation indicated a potential deleterious effect. We conclude that mutations in CITED2 may be involved in POF pathogenesis. © 2012 Mosby, Inc. All rights reserved.

U2 - 10.1016/j.trsl.2012.05.006

DO - 10.1016/j.trsl.2012.05.006

M3 - Research Article

SN - 1931-5244

VL - 160

SP - 384

EP - 388

JO - Translational Research

JF - Translational Research

IS - 5

ER -

CITED2 mutations potentially cause idiopathic premature ovarian failure

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