Mariana Griffero, Anna Flavia Figueredo Benedetti, Marcela Pérez, Luciani Carvalho, Alexander Jorge, Ana Claudia Latronico, Berenice Mendonca, Ivo Arnhold, Verónica Mericq
{"title":"与先天性垂体功能低下相关的新型OTX2功能缺失变异，无眼部异常。","authors":"Mariana Griffero, Anna Flavia Figueredo Benedetti, Marcela Pérez, Luciani Carvalho, Alexander Jorge, Ana Claudia Latronico, Berenice Mendonca, Ivo Arnhold, Verónica Mericq","doi":"10.1515/jpem-2021-0719","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>The normal development of the pituitary gland requires multiple induction signals and transcription factors encoded by more than 30 genes, including <i>OTX2</i>. <i>OTX2</i> mutations have been described with eye abnormalities and variable congenital hypopituitarism, but rarely with hypopituitarism without ocular manifestations.</p><p><strong>Case presentation: </strong>We report a girl with hypopituitarism associated with pituitary hypoplasia and pituitary stalk atrophy, without ocular manifestations. NGS revealed a novel heterozygous mutation in <i>OTX2</i> c.426dupC:p.(Ser143Leufs*2).</p><p><strong>Conclusions: </strong>Mutations in the transcription factor <i>OTX2</i> have been associated with ocular, craniofacial, and pituitary development anomalies. Here we describe a novel mutation in <i>OTX2</i> associated with hypopituitarism without an ocular phenotype.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"831-835"},"PeriodicalIF":1.0000,"publicationDate":"2022-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities.\",\"authors\":\"Mariana Griffero, Anna Flavia Figueredo Benedetti, Marcela Pérez, Luciani Carvalho, Alexander Jorge, Ana Claudia Latronico, Berenice Mendonca, Ivo Arnhold, Verónica Mericq\",\"doi\":\"10.1515/jpem-2021-0719\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objectives: </strong>The normal development of the pituitary gland requires multiple induction signals and transcription factors encoded by more than 30 genes, including <i>OTX2</i>. <i>OTX2</i> mutations have been described with eye abnormalities and variable congenital hypopituitarism, but rarely with hypopituitarism without ocular manifestations.</p><p><strong>Case presentation: </strong>We report a girl with hypopituitarism associated with pituitary hypoplasia and pituitary stalk atrophy, without ocular manifestations. NGS revealed a novel heterozygous mutation in <i>OTX2</i> c.426dupC:p.(Ser143Leufs*2).</p><p><strong>Conclusions: </strong>Mutations in the transcription factor <i>OTX2</i> have been associated with ocular, craniofacial, and pituitary development anomalies. Here we describe a novel mutation in <i>OTX2</i> associated with hypopituitarism without an ocular phenotype.</p>\",\"PeriodicalId\":520684,\"journal\":{\"name\":\"Journal of pediatric endocrinology & metabolism : JPEM\",\"volume\":\" \",\"pages\":\"831-835\"},\"PeriodicalIF\":1.0000,\"publicationDate\":\"2022-03-24\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of pediatric endocrinology & metabolism : JPEM\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1515/jpem-2021-0719\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2022/6/27 0:00:00\",\"PubModel\":\"Print\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of pediatric endocrinology & metabolism : JPEM","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1515/jpem-2021-0719","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/6/27 0:00:00","PubModel":"Print","JCR":"","JCRName":"","Score":null,"Total":0}
Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities.
Objectives: The normal development of the pituitary gland requires multiple induction signals and transcription factors encoded by more than 30 genes, including OTX2. OTX2 mutations have been described with eye abnormalities and variable congenital hypopituitarism, but rarely with hypopituitarism without ocular manifestations.
Case presentation: We report a girl with hypopituitarism associated with pituitary hypoplasia and pituitary stalk atrophy, without ocular manifestations. NGS revealed a novel heterozygous mutation in OTX2 c.426dupC:p.(Ser143Leufs*2).
Conclusions: Mutations in the transcription factor OTX2 have been associated with ocular, craniofacial, and pituitary development anomalies. Here we describe a novel mutation in OTX2 associated with hypopituitarism without an ocular phenotype.
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