title: Oculo-facio-cardio-dental (OFCD) syndrome: the first Italian case of BCOR and co-occurring OTC gene deletion.
abstract: Oculo-facio-cardio-dental (OFCD) syndrome is a rare genetic disorder affecting ocular, facial, dental and cardiac systems. The syndrome is an X-linked dominant trait and it might be lethal in males. This syndrome is usually caused by mutations in the BCL6 interacting co-repressor gene (BCOR). We described a female child with mild phenotype of oculo-facio-cardio-dental syndrome. Array-comparative genomic hybridization (a-CGH) analysis revealed a de novo heterozygous deletion in the Xp11.4 region of approximately 2.3 Mb, involving BCOR and ornithine carbamoyl-transferase (OTC) genes. The deletion observed was subsequently confirmed by real time PCR. In this study we report a first case with co-occurrence of BCOR and OTC genes completely deleted in OFCD syndrome.
authors.affiliation: U.O. Terapia Intensiva Neonatale, P.O."Umberto I", Nocera Inferiore, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Di Stefano
authors.affiliation: Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy; CEINGE-Biotecnologie Avanzate, Naples, Italy. Electronic address: lombardo@ceinge.unina.it.
authors.forename: B
authors.initials: B
authors.lastname: Lombardo
authors.affiliation: Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy; CEINGE-Biotecnologie Avanzate, Naples, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Fabbricatore
authors.affiliation: Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy; CEINGE-Biotecnologie Avanzate, Naples, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Munno
authors.affiliation: U.O.D Diagnostica Ematologica, P.O. "A.Tortora", Pagani, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Caliendo
authors.affiliation: U.O. Ostetricia e Ginecologia, P.O."Umberto I", Nocera Inferiore, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Gallo
authors.affiliation: Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy; CEINGE-Biotecnologie Avanzate, Naples, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Pastore
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002386:Cataract / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization; D004252:DNA Mutational Analysis; D005260:Female; D006343:Heart Septal Defects / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008850:Microphthalmos / Q000175:diagnosis* / Q000235:genetics; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: C411984:BCOR protein, human; D011518:Proto-Oncogene Proteins; D012097:Repressor Proteins; D009954:Ornithine Carbamoyltransferase
keywords: BCOR; OTC; Oculo-facio-cardio-dental syndrome; a-CGH