PDF(Pubmed)
Abstract：
BACKGROUND: The Cut Homeobox 1 (CUX1) gene has been implicated in a number of developmental processes and has recently emerged as an important cause of developmental delay and impaired intellectual development. Individuals with variants in CUX1 have been described with a variety of co-morbidities including variations in sex development (VSD) although these features have not been closely documented.
METHODS: The proband is a 14-year-old male who presented with congenital complex hypospadias, neurodevelopmental differences, and subtle dysmorphism. A family history of neurodevelopmental differences and VSD was noted. Microarray testing and whole exome sequencing found the 46,XY proband had a large heterozygous in-frame deletion of exons 4-10 of the CUX1 gene.
CONCLUSIONS: Our review of the literature has revealed that variants in CUX1 are associated with a range of VSD and suggest this gene should be considered in cases where a VSD is noted at birth, especially if there is a familial history of VSD and/or neurodevelopmental differences. Further work is required to fully investigate the role and regulation of CUX1 in sex development.
METHODS: The proband is a 14-year-old male who presented with congenital complex hypospadias, neurodevelopmental differences, and subtle dysmorphism. A family history of neurodevelopmental differences and VSD was noted. Microarray testing and whole exome sequencing found the 46,XY proband had a large heterozygous in-frame deletion of exons 4-10 of the CUX1 gene.
CONCLUSIONS: Our review of the literature has revealed that variants in CUX1 are associated with a range of VSD and suggest this gene should be considered in cases where a VSD is noted at birth, especially if there is a familial history of VSD and/or neurodevelopmental differences. Further work is required to fully investigate the role and regulation of CUX1 in sex development.
摘要：
背景：CutHomeobox1（CUX1）基因与许多发育过程有关，最近已成为发育迟缓和智力发育受损的重要原因。已经描述了在CUX1中具有变体的个体具有多种合并症，包括性发育（VSD）的变化，尽管这些特征尚未得到密切记录。
方法：先证者是一名14岁男性，患有先天性复杂性尿道下裂，神经发育差异，和微妙的畸形。记录了神经发育差异和VSD的家族史。微阵列测试和整个外显子组测序发现，46，XY先证子具有CUX1基因外显子4-10的大量杂合框内缺失。
结论：我们对文献的回顾表明，CUX1的变异与一系列VSD相关，并建议在出生时发现VSD的情况下应考虑该基因，特别是如果有VSD和/或神经发育差异的家族史。需要进一步的工作来充分研究CUX1在性发育中的作用和调节。
方法：先证者是一名14岁男性，患有先天性复杂性尿道下裂，神经发育差异，和微妙的畸形。记录了神经发育差异和VSD的家族史。微阵列测试和整个外显子组测序发现，46，XY先证子具有CUX1基因外显子4-10的大量杂合框内缺失。
结论：我们对文献的回顾表明，CUX1的变异与一系列VSD相关，并建议在出生时发现VSD的情况下应考虑该基因，特别是如果有VSD和/或神经发育差异的家族史。需要进一步的工作来充分研究CUX1在性发育中的作用和调节。
