Literature DB >> 25447988

Genetic causes of congenital diaphragmatic hernia.

Julia Wynn1, Lan Yu1, Wendy K Chung2.   

Abstract

Congenital diaphragmatic hernia (CDH) is a moderately prevalent birth defect that, despite advances in neonatal care, is still a significant cause of infant death, and surviving patients have significant morbidity. The goal of ongoing research to elucidate the genetic causes of CDH is to develop better treatment and ultimately prevention. CDH is a complex developmental defect that is etiologically heterogeneous. This review summarizes the recurrent genetic causes of CDH including aneuploidies, chromosome copy number variants, and single gene mutations. It also discusses strategies for genetic evaluation and genetic counseling in an era of rapidly evolving technologies in clinical genetic diagnostics.
Copyright © 2014 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Congenital diaphragmatic hernia; Copy number variants; Gene; Genomics; Syndromes

Mesh：

Year:  2014        PMID： 25447988      PMCID： PMC4259843          DOI： 10.1016/j.siny.2014.09.003

Source DB:  PubMed          Journal:  Semin Fetal Neonatal Med        ISSN： 1744-165X            Impact factor:   3.926


  109 in total

1.  Congenital diaphragmatic hernia in Lowe syndrome: a rare association?

Authors:  Hermione J Race; Nour Elhadi; Susan E Holder
Journal:  Clin Dysmorphol       Date:  2010-10       Impact factor: 0.816

2.  Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH.

Authors:  Sibel Kantarci; Kate G Ackerman; Meaghan K Russell; Mauro Longoni; Carrie Sougnez; Kristin M Noonan; Eli Hatchwell; Xiaoyun Zhang; Rafael Pieretti Vanmarcke; Kwame Anyane-Yeboa; Paul Dickman; Jay Wilson; Patricia K Donahoe; Barbara R Pober
Journal:  Am J Med Genet A       Date:  2010-10       Impact factor: 2.802

3.  Structural chromosome anomalies in congenital diaphragmatic hernia.

Authors:  D T Howe; M D Kilby; H Sirry; G M Barker; E Roberts; E V Davison; J Mchugo; M J Whittle
Journal:  Prenat Diagn       Date:  1996-11       Impact factor: 3.050

4.  Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.

Authors:  M Klaassens; M van Dooren; H J Eussen; H Douben; A T den Dekker; C Lee; P K Donahoe; R J Galjaard; N Goemaere; R R de Krijger; C Wouters; J Wauters; B A Oostra; D Tibboel; A de Klein
Journal:  Am J Hum Genet       Date:  2005-03-04       Impact factor: 11.025

5.  Retinoid signaling required for normal heart development regulates GATA-4 in a pathway distinct from cardiomyocyte differentiation.

Authors:  I Kostetskii; Y Jiang; E Kostetskaia; S Yuan; T Evans; M Zile
Journal:  Dev Biol       Date:  1999-02-15       Impact factor: 3.582

6.  Hlx homeo box gene is essential for an inductive tissue interaction that drives expansion of embryonic liver and gut.

Authors:  B Hentsch; I Lyons; R Li; L Hartley; T J Lints; J M Adams; R P Harvey
Journal:  Genes Dev       Date:  1996-01-01       Impact factor: 11.361

Review 7.  Second-trimester sonographic findings in trisomy 22: report of 3 cases and review of the literature.

Authors:  Waldo Sepulveda; Cecilia Be; Carlos Schnapp; Mita Roy; Ruwan Wimalasundera
Journal:  J Ultrasound Med       Date:  2003-11       Impact factor: 2.153

8.  Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia.

Authors:  Lan Yu; Julia Wynn; Yee Him Cheung; Yufeng Shen; George B Mychaliska; Timothy M Crombleholme; Kenneth S Azarow; Foong Yen Lim; Dai H Chung; Douglas Potoka; Brad W Warner; Brian Bucher; Charles Stolar; Gudrun Aspelund; Marc S Arkovitz; Wendy K Chung
Journal:  Hum Genet       Date:  2012-11-09       Impact factor: 4.132

9.  Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.

Authors:  Nicolas Chassaing; Christelle Golzio; Sylvie Odent; Léopoldine Lequeux; Adeline Vigouroux; Jelena Martinovic-Bouriel; Francesco Danilo Tiziano; Lucia Masini; Francesca Piro; Giovanna Maragliano; Anne-Lise Delezoide; Tania Attié-Bitach; Sylvie Manouvrier-Hanu; Heather C Etchevers; Patrick Calvas
Journal:  Hum Mutat       Date:  2009-05       Impact factor: 4.878

10.  Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.

Authors:  Stephen R F Twigg; Christian Babbs; Marijke E P van den Elzen; Anne Goriely; Stephen Taylor; Simon J McGowan; Eleni Giannoulatou; Lorne Lonie; Jiannis Ragoussis; Elham Sadighi Akha; Samantha J L Knight; Roseli M Zechi-Ceide; Jeannette A M Hoogeboom; Barbara R Pober; Helga V Toriello; Steven A Wall; M Rita Passos-Bueno; Han G Brunner; Irene M J Mathijssen; Andrew O M Wilkie
Journal:  Hum Mol Genet       Date:  2013-01-17       Impact factor: 6.150
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  23 in total

1.  Unrecognised diaphragmatic hernia in a refugee child: an incidental diagnosis.

Authors:  Dimitri Poddighe; Tiziana Boggini; Salvatore Savasta; Gian Luigi Marseglia
Journal:  BMJ Case Rep       Date:  2017-06-13

Review 2.  The influence of genetics in congenital diaphragmatic hernia.

Authors:  Lan Yu; Rebecca R Hernan; Julia Wynn; Wendy K Chung
Journal:  Semin Perinatol       Date:  2019-08-01       Impact factor: 3.300

3.  Development of the necrotizing enterocolitis society registry and biorepository.

Authors:  Matthew W Ralls; Samir K Gadepalli; Karl G Sylvester; Misty Good
Journal:  Semin Pediatr Surg       Date:  2017-11-06       Impact factor: 2.754

4.  Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia.

Authors:  Sethuraman Swaminathan; Sudheer R Gorla; Deborah S Barbouth
Journal:  J Pediatr Genet       Date:  2017-01-03

5.  Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia.

Authors:  Mauro Longoni; Frances A High; Hongjian Qi; Maliackal P Joy; Regis Hila; Caroline M Coletti; Julia Wynn; Maria Loscertales; Linshan Shan; Carol J Bult; Jay M Wilson; Yufeng Shen; Wendy K Chung; Patricia K Donahoe
Journal:  Hum Genet       Date:  2017-03-16       Impact factor: 4.132

Review 6.  Congenital diaphragmatic hernia.

Authors:  Augusto Zani; Wendy K Chung; Jan Deprest; Matthew T Harting; Tim Jancelewicz; Shaun M Kunisaki; Neil Patel; Lina Antounians; Pramod S Puligandla; Richard Keijzer
Journal:  Nat Rev Dis Primers       Date:  2022-06-01       Impact factor: 52.329

Review 7.  Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies.

Authors:  Patricia K Donahoe; Mauro Longoni; Frances A High
Journal:  Am J Pathol       Date:  2016-08-24       Impact factor: 4.307

8.  Decreased Endoglin expression in the pulmonary vasculature of nitrofen-induced congenital diaphragmatic hernia rat model.

Authors:  Julia Zimmer; Toshiaki Takahashi; Alejandro D Hofmann; Prem Puri
Journal:  Pediatr Surg Int       Date:  2016-11-07       Impact factor: 1.827

9.  The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.

Authors:  Valerie K Jordan; Tyler F Beck; Andres Hernandez-Garcia; Peter N Kundert; Bum-Jun Kim; Shalini N Jhangiani; Tomasz Gambin; Molly Starkovich; Jaya Punetha; Ingrid S Paine; Jennifer E Posey; Alexander H Li; Donna Muzny; Chih-Wei Hsu; Amber J Lashua; Xin Sun; Caraciolo J Fernandes; Mary E Dickinson; Kevin P Lally; Richard A Gibbs; Eric Boerwinkle; James R Lupski; Daryl A Scott
Journal:  Hum Mol Genet       Date:  2018-06-15       Impact factor: 6.150

Review 10.  Current Concepts in the Management of Congenital Diaphragmatic Hernia in Infants.

Authors:  Vasanth H S Kumar
Journal:  Indian J Surg       Date:  2015-05-30       Impact factor: 0.656
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