Bilateral congenital diaphragmatic defects in two siblings

Thomas, Marion; Stern, L. M.; Morris, Lloyd

doi:10.1016/s0022-3468(76)80206-0

Cited by 39 publications

(14 citation statements)

References 2 publications

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“…The defects that present in the pre- or perinatal period include Bochdalek hernia, diaphragmatic aplasia, and various degrees of muscularization defects or eventrations. Different types of defects occur in the same patients or in siblings, suggesting these represent variable expression of the same underlying pathogenesis [30,31]. Clinical differentiation between these defects may be very difficult, as the residual membranous diaphragm of a muscularization defect is thin and may not be easily visible on prenatal ultrasound or postnatal chest radiographs [32].…”

Section: Discussionmentioning

confidence: 99%

Fog2 Is Required for Normal Diaphragm and Lung Development in Mice and Humans

et al. 2005

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Congenital diaphragmatic hernia and other congenital diaphragmatic defects are associated with significant mortality and morbidity in neonates; however, the molecular basis of these developmental anomalies is unknown. In an analysis of E18.5 embryos derived from mice treated with N-ethyl-N-nitrosourea, we identified a mutation that causes pulmonary hypoplasia and abnormal diaphragmatic development. Fog2 (Zfpm2) maps within the recombinant interval carrying the N-ethyl-N-nitrosourea-induced mutation, and DNA sequencing of Fog2 identified a mutation in a splice donor site that generates an abnormal transcript encoding a truncated protein. Human autopsy cases with diaphragmatic defect and pulmonary hypoplasia were evaluated for mutations in FOG2. Sequence analysis revealed a de novo mutation resulting in a premature stop codon in a child who died on the first day of life secondary to severe bilateral pulmonary hypoplasia and an abnormally muscularized diaphragm. Using a phenotype-driven approach, we have established that Fog2 is required for normal diaphragm and lung development, a role that has not been previously appreciated. FOG2 is the first gene implicated in the pathogenesis of nonsyndromic human congenital diaphragmatic defects, and its necessity for pulmonary development validates the hypothesis that neonates with congenital diaphragmatic hernia may also have primary pulmonary developmental abnormalities.

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Section: Discussionmentioning

confidence: 99%

Fog2 Is Required for Normal Diaphragm and Lung Development in Mice and Humans

et al. 2005

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“…Diaphragmatic hernia is not usually familial, but a few such cases have been recorded, and it has been suggested that the defect is inherited recessively in certain animals (David and Illingworth, 1976;Thomas et al, 1976). Anencephaly has frequently been found to recur in sibships, but the combination of the two defects has not previously been reported in successive pregnancies.…”

Section: Discussionmentioning

confidence: 99%

Anencephaly with diaphragmatic hernia in sibs.

David¹,

Parker²,

Illingworth³

1979

Journal of Medical Genetics

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“…Although the vast majority of individuals have a negative family history, sibling recurrences of isolated CDH are documented (3,(32)(33)(34)(35)(36)(37)(38)(39). However, it is not completely possible to exclude the presence of CDH1 in some of these cases due to limited physical examination and/or diagnostic workup.…”

Section: Clustering Of Isolated Cdh In Kindredsmentioning

confidence: 99%

Genetic aspects of human congenital diaphragmatic hernia

Pober

2008

Clinical Genetics

105

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Congenital diaphragmatic hernia (CDH) is a common major malformation affecting 1/3000-1/4000 births, which continues to be associated with significant perinatal mortality. Much current research is focused on elucidating the genetics and pathophysiology contributing to CDH to develop more effective therapies. The latest data suggest that many cases of CDH are genetically determined and also indicate that CDH is etiologically heterogeneous. The present review will provide a brief summary of diaphragm development and model organism work most relevant to human CDH and will primarily describe important human phenotypes associated with CDH and also provide recommendations for diagnostic evaluation of a fetus or infant with CDH.

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Bilateral congenital diaphragmatic defects in two siblings

Cited by 39 publications

References 2 publications

Fog2 Is Required for Normal Diaphragm and Lung Development in Mice and Humans

Fog2 Is Required for Normal Diaphragm and Lung Development in Mice and Humans

Anencephaly with diaphragmatic hernia in sibs.

Genetic aspects of human congenital diaphragmatic hernia

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