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Parental Origin of the Deletion 22q11.2 and Brain Development in Velocardiofacial Syndrome
A Preliminary Study
Stephan Eliez, MD;
Stylianos E. Antonarakis, MD;
Michael A. Morris, PhD;
Sophie P. Dahoun, MD;
Allan L. Reiss, MD
Arch Gen Psychiatry. 2001;58:64-68.
Background As children with velocardiofacial syndrome (VCFS) develop, they are
at increased risk for psychopathology; one third will eventually develop schizophrenia.
Because VCFS and the concomitant symptomatology result from a known genetic
origin, the biological and behavioral characteristics of the syndrome provide
an optimal framework for conceptualizing the associations among genes, brain
development, and behavior. The purpose of this study was to investigate the
effect of the parental origin of the 22q11.2 microdeletion on the brain development
of children and adolescents with VCFS.
Methods Eighteen persons with VCFS and 18 normal control subjects were matched
individually for age and sex. Results of DNA polymorphism analyses determined
the parental origin of the deletion. Nine persons with VCFS had a deletion
on the maternally derived chromosome 22; 9 persons, on the paternally derived
chromosome 22. High-resolution magnetic resonance imaging scans were analyzed
to provide quantitative measures of gray and white matter brain tissue.
Results Total brain volume was approximately 11% smaller in the VCFS group than
in controls. Comparisons between VCFS subgroups (maternal vs paternal microdeletion
22q11.2) indicated a significant 9% volumetric difference in total volume
of cerebral gray matter (volume was greater in patients with paternal microdeletion)
but not cerebral white matter. Significant age-related changes in gray matter
were detected for subjects whose 22q11.2 deletion was on the maternal chromosome.
Conclusions Children and adolescents with VCFS experience major alterations in brain
volumes. Significant reduction in gray matter development is attributable
to presence of 22q11.2 microdeletion on the maternal chromosome.
From the Department of Psychiatry, Stanford University School of Medicine,
Stanford, Calif (Drs Eliez and Reiss); and Division of Medical Genetics, Geneva
University School of Medicine, Geneva, Switzerland (Drs Antonarakis, Morris,
and Dahoun).
Corresponding author and reprints: Stephan Eliez, MD, Department
of Psychiatry, Stanford University School of Medicine, 401 Quarry Rd, Stanford,
CA 94305-5719 (e-mail: eliez{at}stanford.edu).
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