Analysis of a Scottish founder effect narrows the TAPVR‐1 gene interval to chromosome 4q12

Bleyl, Steven B.; Botto, Lorenzo D.; Carey, John C.; Young, Luciana; Bamshad, Michael J.; Leppert, M.; Ward, Kenneth

doi:10.1002/ajmg.a.31471

Cited by 20 publications

(14 citation statements)

References 27 publications

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“…The linking of a birth defect registry with an extensive, validated, and multigenerational genealogic database representing Northern and Western European ancestry is unparalleled in the United States. The UPDB has been used initially to identify susceptibility genes for specific cancers (Goldgar et al, 1993Wooster et al, 1994;Camp et al, 2009;Neklason et al, 2010), congenital heart defects (Bleyl et al, 1995(Bleyl et al, , 2006, asthma (Teerlink et al, 2009), and autism spectrum disorders (Cannon et al, 2010). It serves as a powerful resource to begin to investigate the genetic contribution for specific birth defects.…”

Section: Discussionmentioning

confidence: 99%

“…This resource has allowed researchers to identify genes for cancer, asthma, and birth defects (Cannon-Albright et al, 1988;Goldgar et al, 1994;Bleyl et al, 2006;Teerlink et al, 2009;Shirts et al, 2010). In addition, the UPDB provides the initial step to evaluate whether there is an increased risk among families for many conditions and has recently been successful in the identification of a familial risk for juvenile rheumatoid arthritis and developmental dysplasia of the hip (Stevenson et al, 2009b;Prahalad et al, 2010).…”

Section: Utah Population Databasementioning

confidence: 99%

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Is gastroschisis truly a sporadic defect? Familial cases of gastroschisis in Utah, 1997 to 2008

Feldkamp

Carey

Pimentel

et al. 2011

Birth Defects Research Part A: Clinical and Molecular Teratolog

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We found a statistically significant excess risk for gastroschisis because of familial factors. Similar to many other birth defects, gastroschisis may fit a multifactorial model of inheritance. The UBDN-UPDB linkage provides a robust approach to investigating genetic factors. Genetic susceptibility should be further investigated because it may have a greater role in the etiology of gastroschisis than currently appreciated.

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Section: Discussionmentioning

confidence: 99%

Section: Utah Population Databasementioning

confidence: 99%

Is gastroschisis truly a sporadic defect? Familial cases of gastroschisis in Utah, 1997 to 2008

Feldkamp

Carey

Pimentel

et al. 2011

Birth Defects Research Part A: Clinical and Molecular Teratolog

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“…Until now, two candidate genes have been proposed. The TAPVR1 gene, playing a role in vasculogenesis, maps to chromosome 4q12, which centromeric region contains receptor tyrosine kinase genes as kinase domain receptor (KDR) [88]. Recently, the TAPVR-1 susceptibility locus was specified to the PDGFRA-KIT intergenic interval of chromosome 4q12 [48].…”

Section: Tapvc and Geneticsmentioning

confidence: 99%

Normal and abnormal development of pulmonary veins: State of the art and correlation with clinical entities

Douglas

Jongbloed

DeRuiter

et al. 2011

International Journal of Cardiology

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“…However, no single gene responsible for this disease has been identified so far. Due to the paucity of multigeneration TAPVR families, the identification of candidate genes by classical linkage analysis has been difficult [Bleyl et al, 2006]. Thus, fine mapping of TAPVRassociated chromosomal rearrangements coupled to evaluation of candidate genes could provide a powerful tool for genetic studies of this cardiac malformation.…”

Section: Introductionmentioning

confidence: 99%

Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary venous return

et al. 2008

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Total anomalous pulmonary venous return (TAPVR) is a congenital heart defect in which the pulmonary veins fail to enter the left atrium and drain instead into the right atrium or one of its venous tributaries. Although a genetic basis for TAPVR has long been recognized, no single gene involved in the pathogenesis of this disease has been identified to date. We previously reported a TAPVR patient bearing a de novo 10;21 balanced translocation. In this work, we cloned both translocation breakpoints from this patient and mapped the ANKRD1 gene, encoding a cardiac transcriptional regulator, 130 kb proximally to the breakpoint on chromosome 10. In situ hybridization analysis performed on murine embryos showed ANKRD1 expression in the developing pulmonary veins, suggesting a possible role for this gene in TAPVR pathogenesis. Moreover, ANKRD1 expression levels were found to be highly increased in lymphoblastoid cell lines derived from both the translocation-bearing proband and a second independent sporadic TAPVR patient, suggesting that disruption of the normal ANKRD1 expression pattern is associated with TAPVR. Finally, a nonconservative missense mutation in the ANKRD1 gene was found in a third sporadic TAPVR patient. In vitro calpain-mediated degradation assays, coupled to reporter gene analysis in transfected HeLa cells, strongly suggested that this mutation enhances both the stability of the ANKRD1/CARP protein and its transcriptional repression activity upon the cardiac-specific atrial natriuretic factor (ANF) promoter. Taken together, these results define ANKRD1 as a possible candidate gene for TAPVR pathogenesis.

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Analysis of a Scottish founder effect narrows the TAPVR‐1 gene interval to chromosome 4q12

Cited by 20 publications

References 27 publications

Is gastroschisis truly a sporadic defect? Familial cases of gastroschisis in Utah, 1997 to 2008

Is gastroschisis truly a sporadic defect? Familial cases of gastroschisis in Utah, 1997 to 2008

Normal and abnormal development of pulmonary veins: State of the art and correlation with clinical entities

Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary venous return

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