16q22.1 microdeletion detected by array-CGH in a family with mental retardation and lobular breast cancer

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• 作者：Chiara Palka Bayard de Volo^a ; ¹ ; ^{chiarapalka@libero.it} ; Melissa Alfonsi^b ; ¹ ; Valentina Gatta^b ; Antonio Novelli^c ; Laura Bernardini^c ; Donatella Fantasia^b ; Ivana Antonucci^b ; Domenico Angelucci^d ; Robert Zori^e ; Liborio Stuppia^b ; ^f ; Francesco Chiarelli^a ; Giuseppe Calabrese^b ; ^g
• 关键词：ZFP90 ; Zinc finger protein 90 ; CDH3 ; Cadherin-3 ; CDH1 ; Cadherin-1 ; LBC ; lobular breast cancer ; HDGC ; hereditary diffuse gastric cancer ; array-CGH ; Array-comparative genomic hybridization ; EEM ; Ectodermal dysplasia ; Ectrodactyly and Macular dystrophy ; GC
• 刊名：Gene
• 出版年：2012
• 期刊代码：73_03781119
• 类别：bio
• 出版时间：1 May, 2012
• 卷：498
• 期：2
• 页码：328-331
• 文件大小：596 K

摘要

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 0.24 Mb 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.