Heritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula Aetiology.
conserved coding regions
foregut
genetic counselling
oesophageal atresia
syndrome
tracheoesophageal fistula
twin
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
10 10 2021
10 10 2021
Historique:
received:
17
08
2021
revised:
03
10
2021
accepted:
05
10
2021
entrez:
23
10
2021
pubmed:
24
10
2021
medline:
10
2
2022
Statut:
epublish
Résumé
Tracheoesophageal Fistula (TOF) is a congenital anomaly for which the cause is unknown in the majority of patients. OA/TOF is a variable feature in many (often mono-) genetic syndromes. Research using animal models targeting genes involved in candidate pathways often result in tracheoesophageal phenotypes. However, there is limited overlap in the genes implicated by animal models and those found in OA/TOF-related syndromic anomalies. Knowledge on affected pathways in animal models is accumulating, but our understanding on these pathways in patients lags behind. If an affected pathway is associated with both animals and patients, the mechanisms linking the genetic mutation, affected cell types or cellular defect, and the phenotype are often not well understood. The locus heterogeneity and the uncertainty of the exact heritability of OA/TOF results in a relative low diagnostic yield. OA/TOF is a sporadic finding with a low familial recurrence rate. As parents are usually unaffected, de novo dominant mutations seems to be a plausible explanation. The survival rates of patients born with OA/TOF have increased substantially and these patients start families; thus, the detection and a proper interpretation of these dominant inherited pathogenic variants are of great importance for these patients and for our understanding of OA/TOF aetiology.
Identifiants
pubmed: 34680991
pii: genes12101595
doi: 10.3390/genes12101595
pmc: PMC8535313
pii:
doi:
Substances chimiques
SOX2 protein, human
0
SOXB1 Transcription Factors
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
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