Terminal Deletion 2q37.3 in a Patient with Klippel-Trenaunay-Weber Syndrome

Puiu, Ileana; Stoica, A; Sosoi, Simona; Puiu, Alexandra; Ioana, Mihai; Burada, Florin

doi:10.3109/15513815.2013.768739

Cited by 16 publications

(11 citation statements)

References 12 publications

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“…This could explain the rare positive results in probands with the KTWS diagnosis [224]. Other genetic abnormalities have been reported as a suspected cause of KTWS, namely translocation t(8;14)(q22.3;q13), de novo supernumerary ring chromosome 18 and terminal deletion 2q37 [225,226]. However, none of the above-mentioned changes has been confirmed to be associated with KTWS in further studies.…”

Section: Klippel-trénaunay-weber Syndromementioning

confidence: 88%

Genetic syndromes with vascular malformations – update on molecular background and diagnostics

et al. 2021

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Vascular malformations are present in a great variety of congenital syndromes, either as the predominant or additional feature. They pose a major challenge to the clinician: due to significant phenotype overlap, a precise diagnosis is often difficult to obtain, some of the malformations carry a risk of life threatening complications and, for many entities, treatment is not well established. To facilitate their recognition and aid in differentiation, we present a selection of notable congenital disorders of vascular system development, distinguishing between the heritable germinal and sporadic somatic mutations as their causes. Clinical features, genetic background and comprehensible description of molecular mechanisms is provided for each entity.

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Section: Klippel-trénaunay-weber Syndromementioning

confidence: 88%

Genetic syndromes with vascular malformations – update on molecular background and diagnostics

et al. 2021

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“…Since the prevalence of NAFLD in adolescents and young adults has reached alarming levels, it is important to determine whether liver disease independently increases the risk of cardiovascular disease in these individuals. It is well known that atherosclerosis begins at birth, the reason young individuals with NAFLD may have a potentially increased cardiovascular risk from early ages (16,17).…”

Section: Discussionmentioning

confidence: 99%

Endothelial dysfunction in adolescents and young adults with nonalcoholic liver disease

Moise¹,

Istrătoaie²,

Donoiu³

et al. 2019

JMMS

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Nonalcoholic liver disease is a global public health problem that increases cardiovascular morbidity and mortality in these patients. This paper discusses endothelial dysfunction among patients (adolescents and young adults) with nonalcoholic liver disease. On the one hand, evidence suggests that cardiovascular disease is the leading cause of mortality in patients with advanced nonalcoholic liver disease and that nonalcoholic fatty liver is associated with an increased risk of cardiovascular disease independent of the presence of cardiovascular risk factors and metabolic syndrome components. On the other hand, nonalcoholic liver disease, especially the non-inflammatory form of nonalcoholic steatohepatitis, may not only be a marker of cardiovascular damage but also a factor involved in its pathogenesis. Such patients are candidates not only for the treatment of liver disease but also for the early treatment of cardiovascular risk factors because many of them, especially those with severe nonalcoholic liver disease, will develop major cardiovascular events and may eventually die of cardiovascular disease before the advanced liver disease occurs.

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“…We also identified a 98 Kbps duplication at 2q37.3 spanning inhibitor of growth 5 ( ING5 ). We are the second group to report on a CNV in this region associated with KTS [Puiu et al, ]. ING5 encodes a transcriptional coactivator and a histone acetylation regulator essential for chromatin remodeling and genomic transcription during embryonic development.…”

Section: Discussionmentioning

confidence: 99%

Copy number variants in a population‐based investigation of Klippel–Trenaunay syndrome

Dimopoulos

Sicko

Kay

et al. 2016

American J of Med Genetics Pt A

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Klippel–Trenaunay syndrome (KTS) is a rare congenital vascular disorder that is thought to occur sporadically; however, reports of familial occurrence suggest a genetic component. We examined KTS cases to identify novel, potentially causal copy number variants (CNVs). We identified 17 KTS cases from all live-births occurring in New York (1998–2010). Extracted DNA was genotyped using Illumina microarrays and CNVs were called using PennCNV software. CNVs selected for follow-up had 10 single nucleotide polymorphisms (SNPs) and minimal overlap with in-house controls or controls from the Database of Genomic Variants. We identified 15 candidate CNVs in seven cases; among them a deletion in two cases within transcripts of HDAC9, a histone deacetylase essential for angiogenic sprouting of endothelial cells. One of them also had a duplication upstream of SALL3, a transcription factor essential for embryonic development that inhibits DNMT3A, a DNA methyltransferase responsible for embryonic de novo DNA methylation. Another case had a duplication spanning ING5, a histone acetylation regulator active during embryogenesis. We identified rare genetic variants related to chromatin modification which may have a key role in regulating vascular development during embryo-genesis. Further investigation of their implications in the pathogenesis of KTS is warranted.

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Terminal Deletion 2q37.3 in a Patient with Klippel-Trenaunay-Weber Syndrome

Cited by 16 publications

References 12 publications

Genetic syndromes with vascular malformations – update on molecular background and diagnostics

Genetic syndromes with vascular malformations – update on molecular background and diagnostics

Endothelial dysfunction in adolescents and young adults with nonalcoholic liver disease

Copy number variants in a population‐based investigation of Klippel–Trenaunay syndrome

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