VATER/VACTERL Association: Evidence for the Role of Genetic Factors

Reutter, Heiko; Ludwig, Michael

doi:10.1159/000345300

Cited by 34 publications

(26 citation statements)

References 67 publications

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“…Single gene mutations have been identified only in rare cases, and the exact genetic etiology remains largely unknown. 10 We reasoned that classifying EA patients into similar phenotypic categories might improve the likelihood of identifying the biological events leading to aberrant organogenesis. Given that our institution is a center that encounters a high volume of LGEA patients, we sought to ascertain the differences between LGEA and non-LGEA patients, in particular differences between rates of associated clinical/phenotypic conditions and syndromes and molecular genetic aberrations.…”

Section: Introductionmentioning

confidence: 99%

Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum

Bairdain

Zurakowski²,

Vargas³

et al. 2016

Neonatology

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Background: Long-gap esophageal atresia (LGEA) may have clinical and syndromic presentations different from those of esophageal atresia (EA) that affects shorter segments of the esophagus (non-LGEA). This may suggest unique underlying developmental mechanisms. Objectives: We sought to characterize clinical differences between LGEA and non-LGEA by carefully phenotyping a cohort of EA patients, and furthermore to assess molecular genetic findings in a subset of them. Methods: This is a retrospective cohort study to systematically evaluate clinical and genetic findings in EA infants who presented at our institution over a period of 10 years (2005-2015). Results: Two hundred twenty-nine EA patients were identified, 69 (30%) of whom had LGEA. Tracheoesophageal fistula was present in most non-LGEA patients (158 of 160) but in only 30% of LGEA patients. The VACTERL association was more commonly seen with non-LGEA compared to LGEA (70 vs. 25%; p < 0.001). Further, trisomy 21 was more common in LGEA than in non-LGEA. 25% of LGEA patients had an isolated EA diagnosis without other anomalies, compared to <1% for non-LGEA. Chromosomal microarray analysis showed copy number variations (CNV) in 4 of 39 non-LGEA patients and 0 of 3 LGEA patients. A review of the ClinGen database showed that none of those CNV have been previously described with EA. Conclusions: LGEA represents a unique type of EA. Compared to non-LGEA, it is more likely to be an isolated defect and associated with trisomy 21. Further, it is less commonly seen with VACTERL anomalies. Our findings suggest the involvement of unique pathways that may be distinct from those causing non-LGEA.

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Section: Introductionmentioning

confidence: 99%

Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum

Bairdain

Zurakowski²,

Vargas³

et al. 2016

Neonatology

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“…8 Reports describing disease-causing copy number variations (CNVs) in patients with OA/TOF are rare. 9,10 In addition to their well-established role in the development of congenital anatomical malformations in general, 11 CNVs contribute to disease aetiology in several genetic syndromes. These include those having OA/TOF as part of their phenotypic spectrum such as Feingold syndrome, 12 22q11 deletion syndrome, 13 CHARGE syndrome 14 and mandibulofacial dysostosis.…”

Section: Introductionmentioning

confidence: 99%

Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula

et al. 2016

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“…Most cases of VACTERL appear sporadic although familial occurrence has been described. Genetic factors have been proposed but so far no single gene mutation or chromosomal anomaly has been identified as the unifying cause [6]. Vertebral anomalies have been reported in 60 to 80% of patients [7–12] and are often accompanied by rib anomalies.…”

Section: Introductionmentioning

confidence: 99%

Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature

et al. 2016

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BackgroundThe vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions. We aimed to present two cases with the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser co-occurrence from our local surgical center and through a systematic literature search detect published cases. Furthermore, we aimed to collect existing knowledge in the embryopathogenesis and genetics in order to discuss a possible link between the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome.Case presentationOur first case was a white girl delivered by caesarean section at 37 weeks of gestation; our second case was a white girl born at a gestational age of 40 weeks. A co-occurrence of vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome was diagnosed in both cases.We performed a systematic literature search in PubMed ((VACTERL) OR (VATER)) AND ((MRKH) OR (Mayer-Rokitansky-Küster-Hauser) OR (mullerian agenesis) OR (mullerian aplasia) OR (MURCS)) without limitations. A similar search was performed in Embase and the Cochrane library. We added two cases from our local center.All cases (n = 9) presented with anal atresia and renal defect. Vertebral defects were present in eight patients. Rectovestibular fistula was confirmed in seven patients. Along with the uterovaginal agenesis, fallopian tube aplasia appeared in five of nine cases and in two cases ovarian involvement also existed.ConclusionsThe co-occurrence of the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome is extremely rare. This group of patients has unusual phenotypic characteristics. The long-term outcome after treatment of defects is not well reported. A single unifying cause is not known and the etiology probably includes both genetic and non-genetic causes. We stress the importance of future studies to optimized treatment, follow-up, and etiology.

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VATER/VACTERL Association: Evidence for the Role of Genetic Factors

Cited by 34 publications

References 67 publications

Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum

Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum

Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula

Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature

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