Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders

C. Carlson, D. Papolos, R. K. Pandita, G. L. Faedda, S. Veit, R. Goldberg, R. Shprintzen, R. Kucherlapati, Bernice E. Morrow

Research output: Contribution to journalArticle

125 Citations (Scopus)

Abstract

Velo-cardio-facial syndrome (VCFS) is characterized by conotruncal cardiac defects, cleft palate, learning disabilities, and characteristic facial appearance and is associated with hemizygous deletions within 22q11. A newly recognized clinical feature is the presence of psychiatric illness in children and adults with VCFS. To ascertain the relationship between psychiatric illness, VCFS, and chromosome 22 deletions, we evaluated 26 VCFS patients by clinical and molecular biological methods. The VCFS children and adolescents were found to share a set of psychiatric disorders, including bipolar spectrum disorders and attention-deficit disorder with hyperactivity. The adult patients, >18 years of age, were affected with bipolar spectrum disorders. Four of six adult patients had psychotic symptoms manifested as paranoid and grandiose delusions. Loss-of-heterozygosity analysis of all 26 patients revealed that all but 3 had a large 3-Mb common deletion. One patient had a nested distal deletion and two did not have a detectable deletion. Somatic cell hybrids were developed from the two patients who did not have a detectable deletion within 22q11 and were analyzed with a large number of sequence tagged sites. A deletion was not detected among the two patients at a resolution of 21 kb. There was no correlation between the phenotype and the presence of the deletion within 22q11. The remarkably high prevalence of bipolar spectrum disorders, in association with the congenital anomalies of VCFS and its occurrence among nondeleted VCFS patients, suggest a common genetic etiology.

Original languageEnglish (US)
Pages (from-to)851-859
Number of pages9
JournalAmerican Journal of Human Genetics
Volume60
Issue number4
StatePublished - Apr 1997

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DiGeorge Syndrome
Psychiatry
Bipolar Disorder
Sequence Tagged Sites
Chromosomes, Human, Pair 22
Chromosome Deletion
Delusions
Hybrid Cells
Loss of Heterozygosity
Learning Disorders
Cleft Palate
Attention Deficit Disorder with Hyperactivity
Phenotype

ASJC Scopus subject areas

  • Genetics

Cite this

Carlson, C., Papolos, D., Pandita, R. K., Faedda, G. L., Veit, S., Goldberg, R., ... Morrow, B. E. (1997). Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders. American Journal of Human Genetics, 60(4), 851-859.

Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders. / Carlson, C.; Papolos, D.; Pandita, R. K.; Faedda, G. L.; Veit, S.; Goldberg, R.; Shprintzen, R.; Kucherlapati, R.; Morrow, Bernice E.

In: American Journal of Human Genetics, Vol. 60, No. 4, 04.1997, p. 851-859.

Research output: Contribution to journalArticle

Carlson, C, Papolos, D, Pandita, RK, Faedda, GL, Veit, S, Goldberg, R, Shprintzen, R, Kucherlapati, R & Morrow, BE 1997, 'Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders', American Journal of Human Genetics, vol. 60, no. 4, pp. 851-859.
Carlson C, Papolos D, Pandita RK, Faedda GL, Veit S, Goldberg R et al. Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders. American Journal of Human Genetics. 1997 Apr;60(4):851-859.
Carlson, C. ; Papolos, D. ; Pandita, R. K. ; Faedda, G. L. ; Veit, S. ; Goldberg, R. ; Shprintzen, R. ; Kucherlapati, R. ; Morrow, Bernice E. / Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders. In: American Journal of Human Genetics. 1997 ; Vol. 60, No. 4. pp. 851-859.
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