Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature

Faivre, Laurence; Morichon-Delvallez, Nicole; Viot, Géraldine; Narcy, F.; Loison, S.; Mandelbrot, Laurent; Aubry, M. C.; Raclin, Valérie; Edery, Patrick; Münnich, Arnold; Vekemans, Michel

doi:10.1002/(sici)1097-0223(1998100)18:10<1055::aid-pd405>3.0.co;2-i

Cited by 47 publications

(40 citation statements)

References 19 publications

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“…Chromosome abnormalities and CDH-Using standard techniques chromosome abnormalities have been detected, on average, in ∼10% of cases with CDH [ Thorpe-Beeston et al, 1989;Philip et al, 1991;Bollmann et al, 1995;Howe et al, 1996;Faivre et al, 1998;Garne et al, 2002;Tonks et al, 2004]. Examples of commonly detected abnormalities include trisomy 18, trisomy 21, trisomy 13, tetrasomy 12p, +der 22 t(11;22), 8p-, and 4p- [Pecile et al, 1990;Howe et al, 1996;Faivre et al, 1998;Lurie, 2003;Borys and Taxy, 2004;Tonks et al, 2004;van Dooren et al, 2004].…”

Section: Further Evidence That Cdh Has Genetic Determinantsmentioning

confidence: 99%

“…Examples of commonly detected abnormalities include trisomy 18, trisomy 21, trisomy 13, tetrasomy 12p, +der 22 t(11;22), 8p-, and 4p- [Pecile et al, 1990;Howe et al, 1996;Faivre et al, 1998;Lurie, 2003;Borys and Taxy, 2004;Tonks et al, 2004;van Dooren et al, 2004]. A recent excellent review demonstrates numerous "hot spots" that may harbor genes contributing to CDH [Lurie, 2003].…”

Section: Further Evidence That Cdh Has Genetic Determinantsmentioning

confidence: 99%

“…A recent excellent review demonstrates numerous "hot spots" that may harbor genes contributing to CDH [Lurie, 2003]. The presence of two recurring cytogenetically detectable abnormalities, del 15q26 [Schlembach et al, 2001;Biggio et al, 2004;Hengstschlager et al, 2004] and del 8p23 [Faivre et al, 1998;Borys and Taxy, 2004;Shimokawa et al, 2005], indicate that hemizygosity for one or more genes located in these regions can cause CDH. Application of careful deletion mapping has recently led to the delineation of a five megabase CDH critical region in 15q26.2 with identification of four candidate genes [Klaassens et al, 2005].…”

Section: Further Evidence That Cdh Has Genetic Determinantsmentioning

confidence: 99%

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Infants with Bochdalek diaphragmatic hernia: Sibling precurrence and monozygotic twin discordance in a hospital‐based malformation surveillance program

Pober

Lin

Russell

et al. 2005

American J of Med Genetics Pt A

100

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Congenital diaphragmatic hernia (CDH) is a common and often devastating birth defect. In order to learn more about possible genetic causes, we reviewed and classified 203 cases of the Bochdalek hernia type identified through the Brigham and Women's Hospital (BWH) Active Malformation Surveillance Program over a 28-year period. Phenotypically, 55% of the cases had isolated CDH, and 45% had complex CDH defined as CDH in association with additional major malformations or as part of a syndrome. When classified according to likely etiology, 17% had a Recognized Genetic etiology for their CDH, while the remaining 83% had No Apparent Genetic etiology. Detailed analysis using this largest cohort of consecutively collected cases of CDH showed low precurrence among siblings. Additionally, there was no concordance for CDH among five monozygotic twin pairs. These findings, in conjunction with previous reports of de novo dominant mutations in patients with CDH, suggest that new mutations may be an important mechanism responsible for CDH. The twin data also raise the possibility that epigenetic abnormalities contribute to the development of CDH.

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Section: Further Evidence That Cdh Has Genetic Determinantsmentioning

confidence: 99%

Section: Further Evidence That Cdh Has Genetic Determinantsmentioning

confidence: 99%

Section: Further Evidence That Cdh Has Genetic Determinantsmentioning

confidence: 99%

See 1 more Smart Citation

Infants with Bochdalek diaphragmatic hernia: Sibling precurrence and monozygotic twin discordance in a hospital‐based malformation surveillance program

Pober

Lin

Russell

et al. 2005

American J of Med Genetics Pt A

100

View full text Add to dashboard Cite

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“…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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“…12,16,21 Deletions of this chromosome region are most strongly associated with congenital heart defects and CDH has been reported in only 4/18 cases with 8p23.1 monosomy.…”

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confidence: 99%

Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1–15q26.2

et al. 2006

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Congenital diaphragmatic hernia (CDH) is a common birth defect with a high mortality and morbidity. There have been few studies that have assessed copy number changes in CDH. We present array comparative genomic hybridization data for 29 CDH patients to identify and map chromosome aberrations in this disease. Three patients with 15q26.1-15q26.2 deletions had heterogeneous breakpoints that overlapped with the critical 4 Mb region previously delineated for CDH, confirming 15q26.1-15q26.2 as a critical region for CDH. The three other most compelling CDH-critical regions for genomic deletions based on these data and a literature review are located at chromosomes 8p23.1, 4p16.3 -4pter, and 1q41-1q42.1. Based on these recurrent deletions at 15q26.1-15q26.2, we hypothesized that loss-of-function mutations in a gene or genes from this region could cause CDH and sequenced six candidate genes from this region in more than 100 patients with CDH. For three of these genes (CHD2, ARRDC4, and RGMA), we identified missense changes and that were not identified in normal controls; however, none of these alterations appeared unambiguously causal with CDH. These data suggest that CDH caused by chromosome deletions at 15q26.2 may arise because of a contiguous gene deletion syndrome or may have a multifactorial etiology. In addition, there is evidence for substantial genetic heterogeneity in CDH and diaphragmatic hernias can be non-penetrant in patients who have deletions involving CDH-critical regions.

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Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature

Cited by 47 publications

References 19 publications

Infants with Bochdalek diaphragmatic hernia: Sibling precurrence and monozygotic twin discordance in a hospital‐based malformation surveillance program

Infants with Bochdalek diaphragmatic hernia: Sibling precurrence and monozygotic twin discordance in a hospital‐based malformation surveillance program

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

Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1–15q26.2

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