RGD Reference Report - Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. - Rat Genome Database

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Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.

Authors: Brown, SA  Warburton, D  Brown, LY  Yu, CY  Roeder, ER  Stengel-Rutkowski, S  Hennekam, RC  Muenke, M 
Citation: Brown SA, etal., Nat Genet. 1998 Oct;20(2):180-3.
RGD ID: 11561954
Pubmed: PMID:9771712   (View Abstract at PubMed)
DOI: DOI:10.1038/2484   (Journal Full-text)

Holoprosencephaly (HPE) is the most common structural anomaly of the human brain and is one of the anomalies seen in patients with deletions and duplications of chromosome 13. On the basis of molecular analysis of a series of patients with hemizygous deletions of the long arm of chromosome 13, we have defined a discrete region in band 13q32 where deletion leads to major developmental anomalies (the 13q32 deletion syndrome). This approximately 1-Mb region lies between markers D135136 and D13S147. Patients in which this region is deleted usually have major congenital malformations, including brain anomalies such as HPE or exencephaly, and digital anomalies such as absent thumbs. We now report that human ZIC2 maps to this critical deletion region and that heterozygous mutations in ZIC2 are associated with HPE. Haploinsufficiency for ZIC2 is likely to cause the brain malformations seen in 13q deletion patients.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
holoprosencephaly  IAGP 11561954DNA:insertion and deletion mutations:cds:RGD 
holoprosencephaly  ISOZIC2 (Homo sapiens)11561954; 11561954DNA:insertion and deletion mutations:cds:RGD 

Objects Annotated

Genes (Rattus norvegicus)
Zic2  (Zic family member 2)

Genes (Mus musculus)
Zic2  (zinc finger protein of the cerebellum 2)

Genes (Homo sapiens)
ZIC2  (Zic family member 2)


Additional Information