Inheritance of the VATER/VACTERL association.

Pediatric Surgery International
Enrika BartelsNadine Zwink

Abstract

VATER/VACTERL association refers to the non-random co-occurrence of the following component features: vertebral defects, anal atresia, cardiac malformations, tracheoesophageal atresia, renal abnormalities, and limb defects. Recently, Solomon et al. (Hum Genet 127:731-733, 2010) observed an increased prevalence of component features among first-degree relatives of VATER/VACTERL patients suggesting that in some patients, the disorder may be inherited. To replicate these findings, we investigated 87 VATER/VACTERL patients with the presence of a minimum of three component features and their first-degree relatives (n = 271). No increase in the overall prevalence of component features was observed in first-degree relatives compared to the general population (χ² = 2.68, p = 0.10). Separate analysis for the prevalence of single component features showed a higher prevalence of tracheoesophageal fistula/atresia among first-degree relatives compared to the general population (OR 17.65, 95% CI 2.47-126.05). However, this was based on occurrence in one family only. Our findings suggest that although familial occurrence renders a genetic contribution likely, the overall risk of recurrence among the first-degree relatives of patients with VAT...Continue Reading

References

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Citations

Nov 21, 2012·American Journal of Medical Genetics. Part a·Benjamin D SolomonPhilip F Giampietro
Jun 17, 2014·European Journal of Medical Genetics·Erwin BrosensAnnelies de Klein
Oct 12, 2013·International Journal of Pediatric Otorhinolaryngology·Gan-qiong XuZhu Ouyang
Jul 11, 2014·Indian Journal of Pediatrics·Victor M Salinas-TorresGuillermo Pérez-García
May 16, 2019·Prenatal Diagnosis·Florencia PetracchiLouise Wilkins-Haug
Jul 16, 2015·American Journal of Medical Genetics. Part a·Mark Lubinsky
Mar 20, 2019·Birth Defects Research·Franziska KauseHeiko Reutter
Apr 7, 2020·American Journal of Medical Genetics. Part a·Carolina I GalarretaLynne M Bird
Dec 24, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Benjamin D Solomon
Dec 5, 2020·Human Molecular Genetics·Ella M M A MartinGavin Chapman

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