Brief report: functional MRI of a patient with 7q11.23 duplication syndrome and autism spectrum disorder.
The duplication of the Williams-Beuren syndrome (WBS) region (7q11.23) is a copy number variant associated with autism spectrum disorder (ASD). One of the most intriguing aspects is that the reciprocal microdeletion causes WBS, characterized by hypersociability, marked empathy, and a relative capacity in verbal short-term memory and language. Herein, we studied, by using functional morphological and volumetric magnetic resonance, a 17-year-old male patient who displays a de novo 7q11.23 duplication and ASD. The limbic system of the patient appeared hypo-functional, while the total brain volume was increased, thus contrasting, in an opposite and intriguing manner, with the global brain volume reduction reported in WBS. Even if these findings come from the analysis of a single patient and, therefore, have to be considered preliminary results, they encourage carrying on further functional and volumetric studies in patients with 7q11.23 duplication, to fully elucidate the role of this gene-dosage alteration on brain development and limbic system function.
Medical Genetics Unit, Hospital "S. M. della Misericordia", University of Perugia, Via E. dal Pozzo, 06123, Perugia, Italy, pprontera@hotmail.com.
Paolo
P
Prontera
Domenico
D
Serino
Bernardo
B
Caldini
Laura
L
Scarponi
Giuseppe
G
Merla
Giuseppe
G
Testa
Marco
M
Muti
Valerio
V
Napolioni
Giovanni
G
Mazzotta
Massimo
M
Piccirilli
Emilio
E
Donti
D000293:Adolescent; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism; D005260:Female; D006801:Humans; D008032:Limbic System / Q000378:metabolism / Q000473:pathology*; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D058028:Research Report; D018980:Williams Syndrome / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism; D055815:Young Adult