title: Prenatal diagnosis and molecular genetic studies on a new case of agnathia-otocephaly.
abstract: Otocephaly is a severe and lethal malformation. We report a new case of a fetus with agnathia-otocephaly, presenting only the facial findings but with otherwise normal organs. The fetal karyotype was normal. We examined the fetal DNA for uniparental disomy of chromosomes 3 and 4, since the mother is a carrier of a t(3;4) chromosome, but did not identify any evidence. We were also unable to find mutations or possible associations with candidate otocephalic genes, including OTX2 and PGAP1. These findings suggest that the molecular etiology of agnathia-otocephaly is still unknown with a mutation yet to be identified in humans.
authors.affiliation: Department of Pediatrics, Laval University, Centre de recherche de CHUL, 1705 Boulevard Laurier, Québec, Québec, Canada. deepak.kamnasaran@crchul.ulaval.ca
authors.forename: Deepak
authors.initials: D
authors.lastname: Kamnasaran
authors.forename: Françoise
authors.initials: F
authors.lastname: Morin
authors.forename: Jean
authors.initials: J
authors.lastname: Gekas
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D004252:DNA Mutational Analysis; D004423:Ear / Q000002:abnormalities*; D017809:Fatal Outcome; D005260:Female; D005838:Genotype; D005865:Gestational Age; D006801:Humans; D008297:Male; D019767:Maxillofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D051857:Otx Transcription Factors / Q000235:genetics*; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014057:Tomography, X-Ray Computed; D016216:Ultrasonography, Prenatal; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; C497659:OTX2 protein, human; D051857:Otx Transcription Factors; C484857:PGAP1 protein, human; D010744:Phosphoric Monoester Hydrolases