A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.
Gea BeundersJiddeke van de KampPradeep VasudevanJenny MortonKatrien SmetsTjitske KleefstraSonja A de MunnikJanneke Schuurs-HoeijmakersBerten CeulemansMarcella ZollinoSabine HoffjanStefan WieczorekJoyce SoLeanne MercerTanya WalkerLea Velshernull nullMichael J ParkerAlex C MageeBart ElffersR Frank KooyHelger G YntemaElizabeth J Meijers-HeijboerErik A SistermansPublished in: Journal of medical genetics (2016)
The 13 patients with AUTS2 syndrome with unique pathogenic deletions scattered around the AUTS2 locus confirm a phenotype-genotype correlation. Despite individual variations, AUTS2 syndrome emerges as a specific ID syndrome with microcephaly, feeding difficulties, dysmorphic features and a specific behavioural phenotype.