与无眼部异常的先天性垂体功能减退症相关的新型 OTX2 功能丧失变异。
Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities.
机构信息
Institute of Maternal and Child Research (IDIMI), Faculty of Medicine, University of Chile, Santiago, Chile.
Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.
出版信息
J Pediatr Endocrinol Metab. 2022 Mar 24;35(6):831-835. doi: 10.1515/jpem-2021-0719. Print 2022 Jun 27.
OBJECTIVES
The normal development of the pituitary gland requires multiple induction signals and transcription factors encoded by more than 30 genes, including . 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 c.426dupC:p.(Ser143Leufs*2).
CONCLUSIONS
Mutations in the transcription factor have been associated with ocular, craniofacial, and pituitary development anomalies. Here we describe a novel mutation in associated with hypopituitarism without an ocular phenotype.
目的
垂体的正常发育需要多种诱导信号和 30 多个基因编码的转录因子，包括. 突变与眼部异常和可变的先天性垂体功能减退有关，但很少与无眼部表现的垂体功能减退有关。
病例介绍
我们报告了一例伴有垂体发育不良和垂体柄萎缩的垂体功能减退症女孩，无眼部表现。NGS 显示 基因 c.426dupC:p.(Ser143Leufs*2)存在新的杂合突变。
结论
转录因子 的突变与眼部、颅面和垂体发育异常有关。在这里，我们描述了一个与无眼部表型的垂体功能减退相关的 基因新突变。
Zotero 插件