Genetics of diaphragmatic hernia
Congenital diaphragmatic hernia (CDH) is a life-threatening malformation characterised by failure of diaphragmatic development with lung hypoplasia and persistent pulmonary hypertension of the newborn (PPHN). The incidence is 1:2000 corresponding to 8% of all major congenital malformations. Morbidit...
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| Main Authors: | , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
08 October 2021
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| In: |
European journal of human genetics
Year: 2021, Volume: 29, Issue: 12, Pages: 1729-1733 |
| ISSN: | 1476-5438 |
| DOI: | 10.1038/s41431-021-00972-0 |
| Online Access: | Verlag, kostenfrei, Volltext: https://doi.org/10.1038/s41431-021-00972-0 Verlag, kostenfrei, Volltext: https://www.nature.com/articles/s41431-021-00972-0 
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| Author Notes: | Yannick Schreiner, Thomas Schaible, Neysan Rafat |
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| 520 | |a Congenital diaphragmatic hernia (CDH) is a life-threatening malformation characterised by failure of diaphragmatic development with lung hypoplasia and persistent pulmonary hypertension of the newborn (PPHN). The incidence is 1:2000 corresponding to 8% of all major congenital malformations. Morbidity and mortality in affected newborns are very high and at present, there is no precise prenatal or early postnatal prognostication parameter to predict clinical outcome in CDH patients. Most cases occur sporadically, however, genetic causes have long been discussed to explain a proportion of cases. These range from aneuploidy to complex chromosomal aberrations and specific mutations often causing a complex phenotype exhibiting multiple malformations along with CDH. This review summarises the genetic variations which have been observed in syndromic and isolated cases of congenital diaphragmatic hernia. | ||
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