title: Distal 10q monosomy: new evidence for a neurobehavioral condition?
abstract: Pure distal monosomy of the long arm of chromosome 10 is a rare cytogenetic abnormality. The location and size of the deletions described in this region are variable. Nevertheless, the patients share characteristic facial appearance, variable cognitive impairment and neurobehavioral manifestations. A Minimal Critical Region corresponding to a 600 kb Smallest Region of deletion Overlap (SRO) has been proposed. In this report, we describe four patients with a distal 10q26 deletion, who displayed attention-deficit/hyperactivity disorders (ADHD). One of them had a marked behavioral profile and relatively preserved cognitive functions. Interestingly, the SRO was not included in the deleted segment of this patient suggesting that this deletion could contain candidate genes involved in the control of neurobehavioral functions. One of these candidates was the CALY gene, known for its association with ADHD patients and whose expression level was shown to be correlated with neurobehavioral disturbances in varying animal models. This report emphasizes the importance of the behavioral problems as a cardinal feature of the 10q microdeletion syndrome. Haploinsufficiency of CALY could play a crucial role in the development of the behavioral troubles within these patients.
authors.affiliation: Service de Génétique Médicale, Hôpital Purpan, Place du Dr Baylac, 31300 Toulouse, France.
authors.forename: Julie
authors.initials: J
authors.lastname: Plaisancié
authors.affiliation: Laboratoire de Cytogénétique, Hôpital Purpan, Toulouse, France.
authors.forename: Laurence
authors.initials: L
authors.lastname: Bouneau
authors.affiliation: Service de Neuropédiatrie, Hôpital des Enfants, Toulouse, France.
authors.forename: Claude
authors.initials: C
authors.lastname: Cances
authors.affiliation: Service de Génétique Médicale, Hôpital Purpan, Place du Dr Baylac, 31300 Toulouse, France.
authors.forename: Christelle
authors.initials: C
authors.lastname: Garnier
authors.affiliation: Service de Neuropédiatrie, Hôpital des Enfants, Toulouse, France.
authors.forename: Jacques
authors.initials: J
authors.lastname: Benesteau
authors.affiliation: Service de Génétique Médicale, Hôpital Purpan, Place du Dr Baylac, 31300 Toulouse, France.
authors.forename: Samantha
authors.initials: S
authors.lastname: Leonard
authors.affiliation: Laboratoire de Cytogénétique, Hôpital Purpan, Toulouse, France.
authors.forename: Georges
authors.initials: G
authors.lastname: Bourrouillou
authors.affiliation: Service de Génétique Médicale, Hôpital Purpan, Place du Dr Baylac, 31300 Toulouse, France.
authors.forename: Patrick
authors.initials: P
authors.lastname: Calvas
authors.affiliation: Laboratoire de Cytogénétique, Hôpital Purpan, Toulouse, France.
authors.forename: Adeline
authors.initials: A
authors.lastname: Vigouroux
authors.affiliation: Service de Génétique Médicale, Hôpital Purpan, Place du Dr Baylac, 31300 Toulouse, France.
authors.forename: Sophie
authors.initials: S
authors.lastname: Julia
authors.affiliation: Service de Génétique Médicale, Hôpital Purpan, Place du Dr Baylac, 31300 Toulouse, France. Electronic address: bieth.e@chu-toulouse.fr.
authors.forename: Eric
authors.initials: E
authors.lastname: Bieth
mesh_terms: D000293:Adolescent; D001289:Attention Deficit Disorder with Hyperactivity / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D055028:Comparative Genomic Hybridization; D007174:Disruptive, Impulse Control, and Conduct Disorders / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics
keywords: ADHD; Array CGH; Behavioral troubles; CALY gene; Psychiatric disorder; del(10)(q26)