16q22.1 microdeletion detected by array-CGH in a family with mental retardation and lobular breast cancer.
We describe the case of a boy with psychomotor delay and dysmorphic features, with a germline 16q22.1 microdeletion identified by array-CGH. The deletion spans 0.24Mb and encompasses three genes (ZFP90, CDH3 and CDH1). The deletion has been demonstrated to be inherited from his mother who was affected by lobular breast cancer (LBC) without any other apparently phenotypic features. We suppose that the microdeletion, in particular ZFP90 which is cerebrally expressed, is causative for the boy's phenotype. Mental retardation in the affected boy can recognize several mechanisms such as variable expressivity, non-penetrance, multifactorial/polygenic inheritance, recessive inheritance, a second rearrangement event and epigenetics. Furthermore, we suggest that the deletion of the CDH1, a tumor suppressor gene, involved in hereditary diffuse gastric cancer (HDGC) and LBC predisposed the mother to the carcinoma.
Department of Pediatrics, "G. d'Annunzio" University, Chieti, Italy. chiarapalka@libero.it
Chiara
C
Palka Bayard de Volo
Melissa
M
Alfonsi
Valentina
V
Gatta
Antonio
A
Novelli
Laura
L
Bernardini
Donatella
D
Fantasia
Ivana
I
Antonucci
Domenico
D
Angelucci
Robert
R
Zori
Liborio
L
Stuppia
Francesco
F
Chiarelli
Giuseppe
G
Calabrese
D000328:Adult; D015703:Antigens, CD; D001943:Breast Neoplasms / Q000235:genetics*; D015820:Cadherins / Q000235:genetics; D018275:Carcinoma, Lobular / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16; D055028:Comparative Genomic Hybridization / Q000379:methods; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011596:Psychomotor Disorders / Q000235:genetics; D012097:Repressor Proteins
D015703:Antigens, CD; C513384:CDH1 protein, human; C512197:CDH3 protein, human; D015820:Cadherins; D002352:Carrier Proteins; D012097:Repressor Proteins; C572415:ZFP90 protein, human