title: Voltage-gated calcium channel gamma 2 subunit gene is not deleted in velo-cardio-facial syndrome.
abstract: Velo-cardio-facial syndrome (VCFS) has been associated with schizophrenic symptoms in some patients and is caused by a deletion of 22q11.21--q11.23. The voltage-gated calcium channel (VGCC) gamma 2 subunit is located on chromosome 22 and is telemeric to the most commonly observed VCFS deletion region but is near a putative marker for schizophrenia (D22S278). Metaphase spreads of four controls, four patients with VCFS, and one patient with VCFS and schizophrenia were evaluated for the VCFS deletion using the VCFS-diagnostic probe, TUPLE 1, and for deletion of VGCC gamma 2 subunit gene using probes for that gene's exon 1 and exons 3 and 4. All of the VCFS patients had deletion of the TUPLE 1 probe on one chromosome of the chromosome 22 pair. None showed deletion of the gamma 2 subunit exons studied. The location of the gamma 2 subunit gene at 22q13.1 was confirmed by FISH in all cases. This study did not show a deletion of the gamma 2 subunit gene as a distinguishing feature of our patient with VCFS and schizophrenia.
authors.affiliation: Department of Psychiatry and Psychology, Mayo Clinic and Foundation, Rochester, MN 55905, USA. black.john@mayo.edu
authors.forename: J L
authors.initials: JL
authors.lastname: Black
authors.forename: L E
authors.initials: LE
authors.lastname: Krahn
authors.forename: S M
authors.initials: SM
authors.lastname: Jalal
mesh_terms: D015220:Calcium Channels / Q000737:chemistry / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005091:Exons; D005819:Genetic Markers; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D021122:Protein Subunits; D012559:Schizophrenia / Q000235:genetics; D017384:Sequence Deletion; D013577:Syndrome
chemical_list: D015220:Calcium Channels; D005819:Genetic Markers; D021122:Protein Subunits