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Evaluation of familial factors in a Mexican population-based setting with gastroschisis: Further evidence for an underlying genetic susceptibility

To evaluate the occurrence of gastroschisis attributable to familial factors in a Mexican population-based setting. A descriptive study was performed among gastroschisis cases born from 2010 through 2016 at Tijuana General Hospital (Baja California, Mexico) to generate multigenerational pedigrees. T...

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Published in:Journal of pediatric surgery 2018-03, Vol.53 (3), p.521-524
Main Authors: Salinas-Torres, Victor M., Salinas-Torres, Rafael A., Cerda-Flores, Ricardo M., MartĂ­nez-de-Villarreal, Laura E.
Format: Article
Language:English
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Summary:To evaluate the occurrence of gastroschisis attributable to familial factors in a Mexican population-based setting. A descriptive study was performed among gastroschisis cases born from 2010 through 2016 at Tijuana General Hospital (Baja California, Mexico) to generate multigenerational pedigrees. There were 87 gastroschisis cases from 57,217 live births. Six probands (6.9%) had another affected family member. Two half-siblings, a set of monozygotic twins, a mother-and-daughter occurrence, a distant paternal cousin and a distant maternal uncle were identified. Sibling recurrence was 5.5%. From 174 males and 153 females studied (n=327, involving 180 nuclear families), sex-dependent influence analysis evidenced an increased susceptibility to gastroschisis in males (3.2%) compared to females (1.8%) with an overall of 2.5% adjusted for proband. Our results provide a greater liability attributable to familial factors on gastroschisis. In spite of the predominant sporadic occurrence, underlying genetic susceptibility and environmental influences point to a complex interplay between genes and environmental factors in gastroschisis. Level IV.
ISSN:0022-3468
1531-5037
DOI:10.1016/j.jpedsurg.2017.08.021