Congenital diaphragmatic hernia in 22q11.2 deletion syndrome

Abstract

We report the important association of congenital diaphragmatic hernia (CDH) and 22q11.2 deletion syndrome (22q11.2DS). The prevalence of CDH in our cohort of patients with 22q11.2DS is 0.8% (10/1246), which is greater than in the general population (0.025%). This observation suggests that 22q11.2DS should be considered when a child or fetus presents with CDH, in particular when other clinical findings associated with the 22q11.2DS are present, such as congenital cardiac defects. Furthermore, this finding may lead to the identification of an additional locus for diaphragmatic hernia in the general population. © 2016 Wiley Periodicals, Inc.

Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next‐generation sequencing

“…TBX1 and TBX5 are members of a phylogenetically conserved family of genes sharing a common DNA‐binding domain, the T‐box, and encode transcription factors that are involved in the regulation of several developmental processes. TBX1 is implicated in 22q11 associated heart defects among other anomalies and is suggested to cause CDH that occurs in 0.8% of 22q11 deletions . To the best of our knowledge, this is the first report of association of severe CDH with TBX1 mutation.…”

“…TBX1 is implicated in 22q11 associated heart defects among other anomalies 21 and is suggested to cause CDH that occurs in 0.8% of 22q11 deletions. 22 To the best of our knowledge, this is the first report of association of severe CDH with TBX1 mutation. TBX1 binds to SMAD1 and prevents SMAD1-SMAD4 interaction leading to BMP-smad1 pathway suppression.…”

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well‐established knowledge to new frontiers

“…Prenatal diagnosis is highly recommended also when other CHD are found in combination with other sonographic findings (such as cleft lip/palate, renal anomalies, polyhydramnios, congenital diaphragmatic hernia, polydactyly, vertebral anomalies, or club foot) or when significant findings are identified in a parent following a careful family history (Besseau-Ayasse et al, 2014; McDonald-McGinn & Zackai, 2008; Ming et al, 1997; Noel et al, 2014; Unolt et al, 2017). Finally, thymic hypoplasia or aplasia may reliably be diagnosed during fetal echocardiography, giving information that may be useful in deciding which fetus needs 22q11.2 testing, as well as in counseling women/couples who decline amniocentesis or who are awaiting amniocentesis results (Barrea et al, 2003; Chaoui et al, 2002; Volpe et al, 2003).…”

Congenital diaphragmatic hernia in a case of Cat eye syndrome

“…Unolt et al published a report investigating the association between CDH and 22q11.2 deletion syndrome, with a prevalence of CDH in this cohort of 0.8%, which is greater than in the general population (0.025%). Analysis of both the genomic sequence for the 22q11 interval and the orthologous regions in the mouse has identified 14 putative genes that are shared between CES and der(22) syndrome .…”