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Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome.


ABSTRACT: 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 embryogenesis. Further investigation of their implications in the pathogenesis of KTS is warranted. © 2016 Wiley Periodicals, Inc.

SUBMITTER: Dimopoulos A 

PROVIDER: S-EPMC6205266 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature

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Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome.

Dimopoulos Aggeliki A   Sicko Robert J RJ   Kay Denise M DM   Rigler Shannon L SL   Fan Ruzong R   Romitti Paul A PA   Browne Marilyn L ML   Druschel Charlotte M CM   Caggana Michele M   Brody Lawrence C LC   Mills James L JL  

American journal of medical genetics. Part A 20161130 2


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 nucle  ...[more]

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