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

Chiara Palka Bayard de Volo, Melissa Alfonsi, Valentina Gatta, Antonio Novelli, Laura Bernardini, Donatella Fantasia, Ivana Antonucci, Domenico Angelucci, Robert Zori, Liborio Stuppia, Francesco Chiarelli, Giuseppe Calabrese

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)328-331
Number of pages4
JournalGene
Volume498
Issue number2
DOIs
Publication statusPublished - May 1 2012

Keywords

  • Array-CGH
  • CDH1
  • ZFP90

ASJC Scopus subject areas

  • Genetics

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