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Article

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

Human genetics - 1 Jul 2001

Orioli I M, Castilla E E, Ming J E, Nazer J, Burle de Aguiar M J, Llerena J C, Muenke M

Abstract excerpt

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...

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Source

Identifiers

PMID: 11479728
DOI: 10.1007/s004390100537

Genes

SHH
ZIC2
SIX3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly.PMID 11479728Read ↗

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.Semantic proximity Read ↗

Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2.Semantic proximity Read ↗

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.Semantic proximity Read ↗

In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.Semantic proximity Read ↗

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.Semantic proximity Read ↗

Mutations in holoprosencephaly.Semantic proximity Read ↗

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

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New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.Semantic proximity Read ↗

Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions.Semantic proximity Read ↗

[Genetic study of holoprosencephaly].Semantic proximity Read ↗

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