Multigeneration maternal transmission in italian families with neural tube defects

Julianne Byrne, Armando Cama, Marie Reilly, Mariantonietta Vigliarolo, Laura Levato, Luca Boni, Natale Lavia, Luciano Andreussi

Research output: Contribution to journalArticlepeer-review


Periconceptional vitamin supplementation with folate prevents about three-quarters of expected cases of neural tube defects (NTDs) in clinical trials. However, vitamin action may be regulated at the level of the gene, and individual susceptibility to environmental agents, including dietary components, also may be under genetic control. We investigated the presence of familial factors in a retrospective case control study of neural tube defects in Genoa, Italy. Cases included all patients treated at a single pediatric neurosurgical service. Controls matched on age and sex came from the same hospital. We found strong evidence for the contribution of genetic factors in this study. There was an excess risk of 14 for the occurrence of NTDs in first-degree relatives compared to controls (P <.0005). There was no difference in sex ratio in any group of relatives, but maternal grandparents of children with a high spinal lesion had 14% fewer offspring than paternal grandparents (P <.005), possibly because of excess miscarriages. Our study is the first to show complex patterns of inheritance in spina bifida families affecting three generations in one clinical subgroup and preferentially on the mother's side. These results support a role for genomic imprinting and highlight the value of multidisciplinary epidemiologic and clinical studies that include multiple generations. New studies incorporating dietary and genetic approaches will help clarify and extend these findings.

Original languageEnglish
Pages (from-to)303-310
Number of pages8
JournalAmerican Journal of Medical Genetics
Issue number3
Publication statusPublished - Dec 18 1996


  • birth defects
  • epidemiology
  • family size
  • family studies
  • neural tube defects
  • spina bifida

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology


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