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Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly

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Abstract.

Holoprosencephaly (HPE) is genetically heterogeneous with four genes, SIX3, SHH, TGIF, and ZIC2 that have been identified to date and that are altered in 12% of patients. To analyze this prevalence in a South American population-based sample (57 HPE cases in 244,511 live and still births or 1 in 4300), we performed a mutational study of these genes in 30 unrelated children (26 newborns and 4 non-newborns) with HPE being ascertained by ECLAMC (Latin American Collaborative Study of Congenital Malformations). We identified three novel mutations: two were missense mutations of the SHH gene (Cys183→Phe; His140→Pro); the third mutation was a 2-bp deletion in the zinc-finger region of the ZIC2 gene. These molecular results explained 8% (2/26 newborn samples) of the HPE cases in this South American population-based sample, a proportion similar to our previously published data from a collection of cases.

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Orioli, I.M., Castilla, E.E., Ming, J.E. et al. Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly. Hum Genet 109, 1–6 (2001). https://doi.org/10.1007/s004390100537

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Keywords

  • Microcephaly
  • Craniosynostosis
  • Pterygium
  • Polydactyly
  • Holoprosencephaly