Identification and Functional Analysis of a New WNT4 Gene Mutation among 28 Adolescent Girls with Primary Amenorrhea and Müllerian Duct Abnormalities: A French Collaborative Study

Philibert, Pascal; Biason‐Lauber, Anna; Rouzier, Roman; Pienkowski, Catherine; Paris, Florentin; Konrad, Daniel; Schoenle, Eugene; Sultan, Charles

doi:10.1210/jc.2007-2023

Cited by 164 publications

(119 citation statements)

References 12 publications

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“…This implies that WNT4 may have a substantial role in regulation of the follicle formation in human ovaries, as also demonstrated in Wnt4-deficient animals, which lack proper follicle structures (Vainio et al 1999). Moreover, WNT4 mRNA and protein were present in ovaries later during fetal life and in adult ovaries, supporting a view that WNT4 may also have a role in follicular development and maturation in human ovaries (Philibert et al 2008).…”

Section: Page 7 Of 17supporting

confidence: 60%

WNT4 is expressed in human fetal and adult ovaries and its signaling contributes to ovarian cell survival

Jääskeläinen

Prunskaite‐Hyyryläinen

Naillat

et al. 2010

Molecular and Cellular Endocrinology

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Please cite this article as: Jääskeläinen, M., Prunskaite-Hyyryläinen, R., Naillat, F., Parviainen, H., Anttonen, M., Heikinheimo, M., Liakka, A., Ola, R., Vainio, S., Vaskivuo, T.E., Tapanainen, J.S., WNT4 is Expressed in Human Fetal and Adult Ovaries, and Its Signaling Contributes to Ovarian Cell Survival, Molecular and Cellular Endocrinology (2008), doi:10.1016/j.mce.2009 This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

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Section: Page 7 Of 17supporting

confidence: 60%

WNT4 is expressed in human fetal and adult ovaries and its signaling contributes to ovarian cell survival

Jääskeläinen

Prunskaite‐Hyyryläinen

Naillat

et al. 2010

Molecular and Cellular Endocrinology

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“…Alguns estudos têm se mostrado promissores quanto a isso, por exemplo, o gene WNT4, localizado no braço curto do cromossomo 1, expresso precocemente no mesonéfron em desenvolvimento, que está envolvido no desenvolvimento das trompas de Falópio, útero, ovários e glândulas mamárias. Mutações do gene WNT4 têm sido associadas à malformação dos ductos de Müller e virilização (hiperandrogenismo) em mulheres com cariótipo 46,XX 20 , ao contrário de mutações localizadas no braço longo do cromossomo 22, cujos resultados são controversos quanto à sua associação com MURCS 1,20 . Apesar da pesquisa molecular do gene ou genes envolvidos não ter sido realizada no presente estudo, a documentação e o relato de casos contribuem para o conhecimento de sua frequência em nosso meio.…”

Section: Discussionunclassified

Forma atípica da síndrome de Mayer-Rokitansky-Kuster-Hauser com malformação renal e displasia cervicotorácica (associação de MURCS)

Borges¹,

Pires²,

Monteiro³

et al. 2012

Rev. Bras. Ginecol. Obstet.

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ResumoA forma atípica e mais severa da síndrome Mayer-Rokitansky-Kuster-Hauser (MRKH) ou MRKH tipo II é também conhecida como associação de MURCS, cujo mnemônico significa aplasia/hipoplasia mülleriana (MU), malformação renal (R) e displasia cervicotorácica (CS). Acomete pacientes do sexo feminino com cariótipo e função ovariana normais, acarretando amenorreia primária. Apresenta incidência de 1:50.000, subestimada pelo diagnóstico tardio e etiologia mal definida. Descrevemos um caso em criança e outro em adolescente, com o objetivo de predizer o diagnóstico ainda na infância, antes da instalação do quadro de amenorreia; as pacientes apresentavam em comum malformação renal, agenesia ou hipoplasia de derivados müllerianos e anomalias vertebrais, configurando o diagnóstico de MURCS. A relevância do estudo é mostrar a necessidade de prosseguir a investigação na presença de algum dos sinais da doença, pesquisando anormalidades correlatas, a fim de se estabelecer o diagnóstico precocemente e, consequentemente, orientar pacientes e seus familiares quanto à melhor forma de condução do caso, incluindo aconselhamento genético. AbstractThe atypical and more severe form of Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) or MRKH type II is also known as MURCS association, an acronym meaning aplasia/hypoplasia of Müllerian ducts (MU), congenital renal dysplasia (R) and cervico-thoracic dysplasia (CS). It affects female patients with normal karyotype and ovarian function, evolving to primary amenorrhea. It has an incidence of 1:50,000, but it is underestimated due to late diagnosis and undefined etiology. We describe the cases of a child and an adolescent in order to predict the diagnosis even in childhood, before the onset of amenorrhea. Patients had in common renal malformation, agenesis or hypoplasia of Müllerian derivatives and vertebral anomalies, establishing the diagnosis of MURCS. The relevance of this paper is to show the importance of further investigation when some of pathologic signs are present, researching correlated abnormalities in order to establish an early diagnosis and consequently to provide guidance to the patients and their families about the best way to conduct the case, including genetic counseling.

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“…WNT4 mutations are associated with Müllerian aplasia, hyperandrogenism, and renal malformations [89]. In this phenotype, failure to suppress androgens in the ovary occurs leading to Müllerian aplasia [90,91].…”

Section: Müllerian Aplasiamentioning

confidence: 99%

Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy

Owen¹,

JH²

2013

J Genet Syndr Gene Ther

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Müllerian and vaginal anomalies are congenital malformations of the female reproductive tract resulting from alterations in the normal developmental pathway of the uterus, cervix, fallopian tubes, and vagina. The most common of the Müllerian anomalies affect the uterus and may adversely impact reproductive outcomes highlighting the importance of gaining understanding of the genetic mechanisms that govern normal and abnormal development of the female reproductive tract. Modern molecular genetics with study of knock out animal models as well as several genetic syndromes featuring abnormalities of the female reproductive tract have identified candidate genes significant to this developmental pathway. Further emphasizing the importance of understanding female reproductive tract development, recent evidence has demonstrated expression of embryologically significant genes in the endometrium of adult mice and humans. This recent work suggests that these genes not only play a role in the proper structural development of the female reproductive tract but also may persist in adults to regulate proper function of the endometrium of the uterus. As endometrial function is critical for successful implantation and pregnancy maintenance, these recent data suggest a target for gene therapy. Future research will be needed to determine if gene therapy may improve reproductive outcomes for patients with demonstrated deficient endometrial expression related to abnormal gene expression.

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Identification and Functional Analysis of a New WNT4 Gene Mutation among 28 Adolescent Girls with Primary Amenorrhea and Müllerian Duct Abnormalities: A French Collaborative Study

Cited by 164 publications

References 12 publications

WNT4 is expressed in human fetal and adult ovaries and its signaling contributes to ovarian cell survival

WNT4 is expressed in human fetal and adult ovaries and its signaling contributes to ovarian cell survival

Forma atípica da síndrome de Mayer-Rokitansky-Kuster-Hauser com malformação renal e displasia cervicotorácica (associação de MURCS)

Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy

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