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

被引：9

作者：

de Volo, Chiara Palka Bayard ^{[1
]}

Alfonsi, Melissa ^{[2
]}

Gatta, Valentina ^{[2
]}

Novelli, Antonio ^{[3
]}

Bernardini, Laura ^{[3
]}

Fantasia, Donatella ^{[2
]}

Antonucci, Ivana ^{[2
]}

Angelucci, Domenico ^{[4
]}

Zori, Robert ^{[5
]}

Stuppia, Liborio ^{[2
,6
]}

Chiarelli, Francesco ^{[1
]}

Calabrese, Giuseppe ^{[2
,7
]}

机构：

[1] Univ G DAnnunzio, Dept Pediat, I-66100 Chieti, Italy

[2] Univ G DAnnunzio, Dept Oral Sci Nano & Biotechnol, I-66100 Chieti, Italy

[3] IRCCS Casa Sollievo Sofferenza, San Giovanni Rotondo, Italy

[4] Univ G DAnnunzio, Unit Pathol, I-66100 Chieti, Italy

[5] Univ Florida, Dept Pediat, Div Clin Genet & Metab, Gainesville, FL USA

[6] IGM CNR IOR, Bologna, Italy

[7] Med Genet Spirito Santo Hosp, Pescara, Italy

来源：

GENE | 2012年 / 498卷 / 02期

关键词：

ZFP90; CDH1; Array-CGH; DIFFUSE GASTRIC-CANCER; E-CADHERIN; GERMLINE MUTATIONS; UNIPARENTAL DISOMY; CDH1; EXPRESSION; GENES; DIAGNOSIS;

D O I：

10.1016/j.gene.2012.01.028

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

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. (C) 2012 Elsevier B.V. All rights reserved.

引用

页码：328 / 331

页数：4

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