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CNE-5

Chr X, YAR

CNE-5 enhancer upstream of SHOX

Also known as: uCNE5

NCBI Gene: 108353830 OMIM: 611290

CNE-5 is a conserved enhancer element that regulates expression of the SHOX gene, which is critical for skeletal development. Mutations including deletions and duplications of this regulatory region cause Leri-Weill dyschondrosteosis and idiopathic short stature, with additional associations reported in severe combined immunodeficiency, microphthalmia/coloboma, and persistent hyperplastic primary vitreous. The inheritance pattern is pseudoautosomal dominant due to its location in the pseudoautosomal region where the X and Y chromosomes share identical DNA sequences.

OMIM ResearchSummary from RefSeq, OMIM

This genomic element is found within the pseudoautosomal region 1 (PAR1) of chromosomes X and Y, where each chromosome contains the same DNA region. It is located approximately 186 kb upstream of the SHOX (short stature homeobox) gene, and is one of several conserved elements that surround that gene. It can function as an enhancer of SHOX gene expression, and has been shown to form looping interactions with the SHOX promoter in 4C-seq assays. Mutations that include this element, including deletions and microduplications, are associated with Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS), and they have also been implicated in autism spectrum disorders (ASDs) and related neurodevelopmental conditions. [provided by RefSeq, Jul 2016]

OMIM ResearchGenerating clinical summary…