title: Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2.
abstract: We report an interstitial deletion of chromosome 3q26-q28 in a fetus in which anophthalmia had been detected prenatally. FISH analysis, using BAC clones encompassing the SOX2 locus, showed that SOX2 gene was involved in the chromosomal breakpoint of the deletion. This case confirms that haploinsufficiency for SOX2 plays a crucial role in human eye development and emphasizes the necessity of careful chromosomal analysis, including FISH analysis of the 3q region, in case of prenatal discovery of anophthalmia.
authors.affiliation: Service de génétique médicale, CHU Angers, France.
authors.forename: Agnès
authors.initials: A
authors.lastname: Guichet
authors.forename: Stéphane
authors.initials: S
authors.lastname: Triau
authors.forename: Catherine
authors.initials: C
authors.lastname: Lépinard
authors.forename: Chantal
authors.initials: C
authors.lastname: Esculapavit
authors.forename: Florence
authors.initials: F
authors.lastname: Biquard
authors.forename: Philippe
authors.initials: P
authors.lastname: Descamps
authors.forename: Férechté
authors.initials: F
authors.lastname: Encha-Razavi
authors.forename: Dominique
authors.initials: D
authors.lastname: Bonneau
mesh_terms: D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology; D000853:Anophthalmos / Q000175:diagnosis* / Q000235:genetics*; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D020732:Cytogenetic Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D024002:HMGB Proteins; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009687:Nuclear Proteins / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D055748:SOXB1 Transcription Factors; D014157:Transcription Factors
chemical_list: D004268:DNA-Binding Proteins; D024002:HMGB Proteins; D009687:Nuclear Proteins; C527782:SOX2 protein, human; D055748:SOXB1 Transcription Factors; D014157:Transcription Factors