StudyType	PubMedID	Author	Title	Journal	PublishDate	Chromosome	Disease	Technology	Species	CaseID	Platform	CNA	Connection	Gene	Affiliation	Abstract	GenomeAssembly	GEO	dbGaP	ENA	IsCancer	FusionGene
Research	24440784	Paolo Fontana, Rita Genesio, Alberto Casertano, Gerarda Cappuccio, Angela Mormile, Lucio Nitsch, Achille Iolascon, Generoso Andria, Daniela Melis	Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene	Gene	2014 Jan	1,9,21	Loeys-Dietz syndrome	Array CGH	Homo sapiens	24440784_1	NimbleGen CGX-6 PKI Array	chr1:212338589-217573448:-1;chr1:236581779-237907878:-1;chr21:34848660-35675464:-1;chr9:485809-644518:-1		CENPF;CHRM3;CLIC6;ESRRG;KANK1;KCNK2;KCTD3;PTPN14;RCAN1;RRP15;RUNX1;SMYD2;SPATA17;TGFB2;USH2A	Department of Molecular Medicine and Medical Biotechnology, Federico II University, Naples, Italy	The TGF-beta signaling pathway controls cellular proliferation, growth and differentiation and regulates several functions of the connective tissue. Disruption of genes coding for components of the TGF-beta signaling pathway or its interactors, such as fibrillin-1, has been shown to cause several human pathologies. Large deletions and non-sense mutations in TGFB2 gene have been recently described in patients with aortic aneurysm, scoliosis, arachnodactyly, chest deformities, joint hyper-flexibility, and mild intellectual disability; this condition has been called Loeys-Dietz syndrome, type 4. In this paper we describe an 18-year-old girl with borderline mental impairment, seizures, retinal degeneration, short stature, congenital hip dysplasia, severe and worsening joint hypermobility, scoliosis, progressive deformation of the long bones, aortic dilatation and platelet disorder. Molecular study of DNA by Array CGH demonstrated four de novo microdeletions: TGFB2 is among the genes deleted and we consider it the obvious candidate for the clinical phenotype. The multiple chromosomal rearrangements detected in the current patient can be ascribed to an event of constitutional chromothripsis.	NCBI 36/hg18				No	NA