Denys–Drash syndrome and congenital diaphragmatic hernia: Another case with the 1097G &gt; A(Arg366His) mutation

Antonius, Tim; Bon, Bregje W.M. van; Eggink, Alex J.; Burgt, Ineke van der; Noordam, C.; Heijst, Arno van

doi:10.1002/ajmg.a.32168

Cited by 40 publications

(26 citation statements)

References 28 publications

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“…The same rare mutation in WT1 has been reported in three cases of CDH with clinical features of Denys-Drash syndrome [18][19][20] . This gene encodes a zinc-finger transcription factor expressed in the septum transversum and in the pleural and abdominal mesothelial tissues that form the diaphragm.…”

mentioning

confidence: 84%

Retinoid Pathway and Congenital Diaphragmatic Hernia: Hypothesis from the Analysis of Chromosomal Abnormalities

et al. 2010

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Twelve retinoid-related genes have been proposed as potential candidates. Among them, COUP-TFII, FOG2 and GATA4 have already been well studied, especially in animal models. We propose other candidates such as STRA6, LRAT, CRBP1, CRBP2 and CRABP1 are directly implicated in retinoic acid metabolism. Conclusion: The identification of CDH-related genes and pathways affecting a normal diaphragm will contribute to the understanding of the pathophysiology of this severe embryopathy and might help to facilitate prenatal management and devise more individual treatment strategies. Further studies are necessary to screen large cohorts of patients with CDH for microimbalances or de novo mutations in these candidate genes. Moreover, functional analyses are needed to establish their exact role in CDH etiology.

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confidence: 84%

Retinoid Pathway and Congenital Diaphragmatic Hernia: Hypothesis from the Analysis of Chromosomal Abnormalities

et al. 2010

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“…It may also occur as part of a recognised syndrome for which a single causal gene may be identified. Examples include STRA6 in Matthew-Wood syndrome (Golzio et al, 2007;Pasutto et al, 2007;Chassaing et al, 2009;Segel et al, 2009), WT1 in Denys-Drash syndrome (Devriendt et al, 1995;Antonius et al, 2008), and EFNB1 in craniofrontonasal syndrome (CFNS) (Wieland et al, 2004;Vasudevan et al, 2006). Alternatively, non-isolated CDH may be associated with specific genetic loci, including 8p23.1 (Faivre et al, 1998;Wat Copyright  2010John Wiley & Sons, Ltd. et al, 2009 and 15q26 (Klaassens et al, 2005Slavotinek et al, 2006), or with a clinically recognised syndrome of currently unknown genetic cause such as Fryns syndrome (Fryns et al, 1979(Fryns et al, , 1989Neville et al, 2002;Slavotinek, 2004).…”

Section: Introductionmentioning

confidence: 99%

Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH)

et al. 2010

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Objective Congenital diaphragmatic hernia (CDH) is a congenital birth defect affecting around 1/3000 births. We propose that a significant number of isolated CDH cases have an underlying genetic cause, and that a subset of these result from copy number variations (CNVs) identifiable by array CGH. MethodologyWe have designed a custom array targeted at genes and genomic loci associated with CDH. A total of 79 isolated CDH patients were screened using this targeted array. ResultsIn three patients, we detected genomic imbalances associated with the observed diaphragmatic hernia; a deletion of 8p22-p23.3, 14.2 Mb in size, a 340 kb duplication of Xq13.1 including the ephrin-B1 gene (EFNB1 ), and mosaicism for trisomy 2.Conclusion Using this approach, we detected genomic imbalances associated with CDH in 3/79 (4%) isolated CDH patients. Our findings further implicate 8p deletions as being associated with CDH. The duplication of EFNB1 further highlights this gene as a potential candidate involved in diaphragm development. Mosaicism for trisomy 2 is a rare event and unlikely to be a common cause of CDH. Further investigations of isolated CDH patients by array CGH will continue to identify novel submicroscopic loci and refine genomic regions associated with CDH.

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“…Despite the 'true' Bochdalek phenotype of the wt1 null mutant mice, a translation to the human situation of CDH has not been made. Besides a few reports of mutations of WT1 in human case reports on syndromic CDH such as WAGR and Denysh Drash, no relationship between the presence of the WT1 mutation and isolated CDH was found [102][103][104][105] . In a Swedish series of 27 children with isolated CDH no WT1 gene mutations could be detected [106] .…”

Section: Wilm's Tumor 1 (Wt1)mentioning

confidence: 99%

Congenital Diaphragmatic Hernia: Comparison of Animal Models and Relevance to the Human Situation

et al. 2009

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Congenital diaphragmatic hernia (CDH) occurs in 1 in 3,000 newborns. Mortality and morbidity are due to the amount of pulmonary hypoplasia (PH), the response on artificial ventilation and the presence of therapy-resistant pulmonary hypertension. The pathogenesis and etiology of CDH and its associated anomalies are still largely unknown despite all research efforts over the past years. Several animal models have been proposed to study CDH. In this review we compare surgical, pharmacological and transgenic models, and discuss their strengths and limitations to study PH.

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Denys–Drash syndrome and congenital diaphragmatic hernia: Another case with the 1097G > A(Arg366His) mutation

Cited by 40 publications

References 28 publications

Retinoid Pathway and Congenital Diaphragmatic Hernia: Hypothesis from the Analysis of Chromosomal Abnormalities

Retinoid Pathway and Congenital Diaphragmatic Hernia: Hypothesis from the Analysis of Chromosomal Abnormalities

Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH)

Congenital Diaphragmatic Hernia: Comparison of Animal Models and Relevance to the Human Situation

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