BACKGROUND: We report a 13-year-old female @entity1 followed since birth for multiple rare @entity154 , including @entity3798 , @entity8721 , and severe dilatation of the ascending aorta. METHODS: Comprehensive phenotype assessment throughout childhood included repeated echocardiographic measurements, evaluation of renal function, and immunohistochemical analysis of skin biopsy samples. Whole-exome sequencing was performed for the @entity1 and both unaffected parents. RESULTS: We identified a novel de novo mutation in the transcription factor @entity58599 ( @entity6869 :p.Gln161*) in the @entity1 , which was absent in all unaffected family members. Echocardiography revealed early onset and progressive dilatation of the ascending aorta. Skin biopsy results confirmed the defects of the blood vasculature in the presence of intact lymphatic vessels. Assessment of renal function did not show any signs of @entity8 or @entity177 in the @entity1 . CONCLUSIONS: The genetic finding of a pathogenic @entity58599 mutation enabled the diagnosis of the rare @entity3798 - @entity8721 in our @entity1 . The identification of a novel stop gain mutation in the @entity58599 gene in association with dilatation of the aorta highlights the importance of this gene during the development of the circulatory system. Our study highlights the importance of whole-exome sequencing in the rapid identification of genes and gene mutations involved in rare conditions and thus expanding the knowledge and spectrum of clinical manifestations associated with them.

Aortic Dilatation Associated With a De Novo Mutation in  the  @entity58599 Gene: Expanding the Clinical Spectrum of  @entity3798 - XXXX .

@entity1 :: ('9606', 'Species') :: ['patient'] @entity154 :: ('MESH:D000013', 'Disease') :: ['congenital defects'] @entity3798 :: ('MESH:D007039', 'Disease') :: ['hypotrichosis'] @entity8 :: ('MESH:D007674', 'Disease') :: ['renal problems'] @entity8721 :: ('MESH:D013684', 'Disease') :: ['telangiectasia', 'lymphedema-telangiectasia syndrome'] @entity58599 :: ('54345', 'Gene') :: ['SOX18'] @entity177 :: ('MESH:D051437', 'Disease') :: ['renal failure'] @entity6869 :: ('c|SUB|C|481|T', 'DNAMutation') :: ['c.481C>T']
@entity8721 :: (MESH:D013684,Disease) :: ['Lymphedema-Telangiectasia Syndrome']
