Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2

Nilrat Wannasilp, Benjamin D. Solomon, Nicole Warren-Mora, Nancy J. Clegg, Mauricio R. Delgado, Felicitas Lacbawan, Ping Hu, Thomas L. Winder, Erich Roessler, Maximilian Muenke

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


Holoprosencephaly (HPE) is the most common malformation of the human forebrain. Typical manifestations in affected patients include a characteristic pattern of structural brain and craniofacial anomalies. HPE may be caused by mutations in over 10 identified genes; the inheritance is traditionally viewed as autosomal dominant with highly variable expressivity and incomplete penetrance. We present the description of a family simultaneously segregating two novel variants in the HPE-associated genes, ZIC2 and GLI2, as well as the results of extensive population-based studies of the variant region in GLI2. This is the first time that multiple HPE-associated variants in these genes have been reported in one family, and raises important questions about how clinicians and researchers should view the inheritance of conditions such as HPE.

Original languageEnglish (US)
Pages (from-to)860-864
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number4
StatePublished - Apr 2011


  • GLI2
  • HPE
  • Holoprosencephaly
  • ZIC2

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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