title: Recurrent anencephaly: a case report and examination of the VANGL1 and FOXN1 genes.
abstract: We report a new and rare case of recurrent anencephaly in a family with no other apparent abnormalities. The karyotypes of the family and all affected subjects were normal. Thorough mutational analyses of VANGL1 of chromosome 1p13.1 and FOXN1 of chromosome 17q11-q12, genes that are associated with phenotypes of the anencephaly spectrum, unfortunately did not disclose any DNA variations in an affected fetus of this family. The etiology of recurrent anencephaly in this family is therefore due to mutations in genes yet to be discovered, perhaps of the planar cell polarity pathway, or to possible environmental gestational factors during development.
authors.affiliation: Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, Canada.
authors.forename: Consolato
authors.initials: C
authors.lastname: Sergi
authors.forename: Jean
authors.initials: J
authors.lastname: Gekas
authors.forename: Deepak
authors.initials: D
authors.lastname: Kamnasaran
mesh_terms: D000328:Adult; D000757:Anencephaly / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D002352:Carrier Proteins; D051858:Forkhead Transcription Factors; D008565:Membrane Proteins; C488287:VANGL1 protein, human; C090140:Whn protein