Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.

doi:10.1136/jmg.2009.073049

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Article

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.

Journal of medical genetics - 1 Aug 2010

Solomon Benjamin D, Lacbawan Felicitas, Mercier Sandra, Clegg Nancy J, Delgado Mauricio R, Rosenbaum Kenneth, Dubourg Christèle, David Veronique, Olney Ann Haskins, Wehner Lars-Erik, Hehr Ute, Bale Sherri, Paulussen Aimee, Smeets Hubert J, Hardisty Emily, Tylki-Szymanska Anna, Pronicka Ewa, Clemens Michelle, McPherson Elizabeth, Hennekam Raoul C M, Hahn Jin, Stashinko Elaine, Levey Eric, Wieczorek Dagmar, Roeder Elizabeth, Schell-Apacik Chayim Can, Booth Carol W, Thomas Ronald L, Kenwrick Sue, Cummings Derek A T, Bous Sophia M, Keaton Amelia, Balog Joan Z, Hadley Donald, Zhou Nan, Long Robert, Vélez Jorge I, Pineda-Alvarez Daniel E, Odent Sylvie, Roessler Erich, Muenke Maximilian

Abstract excerpt

BACKGROUND: Holoprosencephaly (HPE), the most common malformation of the human forebrain, may be due to mutations in genes associated with non-syndromic HPE. Mutations in ZIC2, located on chromosome 13q32, are a common cause of non-syndromic, non-chromosomal HPE. OBJECTIVE: To characterise genetic and clinical findings in patients with ZIC2 mutations. METHODS: Through the National Institutes of Health and...

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Identifiers

PMID: 19955556
DOI: 10.1136/jmg.2009.073049
PMCID: PMC3208626

Genes

ZIC2

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