%0 Journal Article
%T Consider CUX1 variants in children with a variation of sex development: a case report and review of the literature.
%A Tan L
%A Young SG
%A Sinclair AH
%A Hunter MF
%A Ayers KL
%J BMC Med Genomics
%V 17
%N 1
%D 2024 Aug 5
%M 39103808
%F 3.622
%R 10.1186/s12920-024-01945-0
%X <B>BACKGROUND: </B>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.<BR><B>METHODS: </B>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.<BR><B>CONCLUSIONS: </B>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.