ArticleAmerican journal of medical genetics. Part A2015
FBN1 contributing to familial congenital diaphragmatic hernia.
Article in American journal of medical genetics. Part A, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 28 citations in OpenAlex.
- Article
- Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome.Italian journal of pediatrics · 2024Article
- Article
- Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.Journal of medical genetics · 2022Article
- Underlying genetic etiologies of congenital diaphragmatic hernia.Prenatal diagnosis · 2022Review
- Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge.Frontiers in pediatrics · 2021Review
- An omic approach to congenital diaphragmatic hernia: a pilot study of genomic, microRNA, and metabolomic profiling.Journal of perinatology : official journal of the California Perinatal Association · 2020Article
- Nutrients and Microbiota in Lung Diseases of Prematurity: The Placenta-Gut-Lung Triangle.Nutrients · 2020Review
- Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm.Journal of pediatric genetics · 2018Article
- The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.Human molecular genetics · 2018Article
- Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.Genome research · 2018Article
- Gastrointestinal Symptoms in Marfan Syndrome and Hypermobile Ehlers-Danlos Syndrome.Gastroenterology research and practice · 2018Article
- Congenital diaphragmatic hernias: from genes to mechanisms to therapies.Disease models & mechanisms · 2017Review
- Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies.Journal of applied genetics · 2017Review
- Exome sequencing identifies de novo pathogenic variants inCold Spring Harbor molecular case studies · 2017Article
- Decreased Desmin expression in the developing diaphragm of the nitrofen-induced congenital diaphragmatic hernia rat model.Pediatric surgery international · 2016Article
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Authors and funding
16 authors at 4 institutions in 2 countries.
Funding
Abstract
Congenital diaphragmatic hernia (CDH) is a relatively common, life--threatening birth defect. We present a family with recurrent CDH--paraesophageal and central--for whom exome sequencing (ES) revealed a frameshift mutation (c.4969_4970insA, p.Ile1657Asnfs*30) in the fibrillin 1 gene (FBN1) that causes Marfan syndrome. A diagnosis of Marfan syndrome had not been considered previously in this family. However, a review of the literature demonstrated that FBN1 mutations have an unusual pattern of CDH in which paraesophageal hernias are particularly common. Subsequent clinical evaluations revealed evidence for ectopia lentis in affected family members supporting a clinical diagnosis of Marfan syndrome. Since only two other cases of familial CDH have been described in association with FBN1 mutations, we investigated an oligogenic hypothesis by examining ES data for deleterious sequence changes in other CDH-related genes. This search revealed putatively deleterious sequence changes in four other genes that have been shown to cause diaphragm defects in humans and/or mice--FREM1, DES, PAX3 and MET. It is unclear whether these changes, alone or in aggregate, are contributing to the development of CDH in this family. However, their individual contribution is likely to be small compared to that of the frameshift mutation in FBN1. We conclude that ES can be used to identify both major and minor genetic factors that may contribute to CDH. These results also suggest that ES should be considered in the diagnostic evaluation of individuals and families with CDH, particularly when other diagnostic modalities have failed to reveal a molecular etiology.
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