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 language | English |
|---|---|
| Pages (from-to) | 328-331 |
| Number of pages | 4 |
| Journal | Gene |
| Volume | 498 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - May 1 2012 |
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Keywords
- Array-CGH
- CDH1
- ZFP90
ASJC Scopus subject areas
- Genetics
Cite this
16q22.1 microdeletion detected by array-CGH in a family with mental retardation and lobular breast cancer. / Palka Bayard de Volo, Chiara; Alfonsi, Melissa; Gatta, Valentina; Novelli, Antonio; Bernardini, Laura; Fantasia, Donatella; Antonucci, Ivana; Angelucci, Domenico; Zori, Robert; Stuppia, Liborio; Chiarelli, Francesco; Calabrese, Giuseppe.
In: Gene, Vol. 498, No. 2, 01.05.2012, p. 328-331.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - 16q22.1 microdeletion detected by array-CGH in a family with mental retardation and lobular breast cancer
AU - Palka Bayard de Volo, Chiara
AU - Alfonsi, Melissa
AU - Gatta, Valentina
AU - Novelli, Antonio
AU - Bernardini, Laura
AU - Fantasia, Donatella
AU - Antonucci, Ivana
AU - Angelucci, Domenico
AU - Zori, Robert
AU - Stuppia, Liborio
AU - Chiarelli, Francesco
AU - Calabrese, Giuseppe
PY - 2012/5/1
Y1 - 2012/5/1
N2 - 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.
AB - 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.
KW - Array-CGH
KW - CDH1
KW - ZFP90
UR - http://www.scopus.com/inward/record.url?scp=84858747796&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84858747796&partnerID=8YFLogxK
U2 - 10.1016/j.gene.2012.01.028
DO - 10.1016/j.gene.2012.01.028
M3 - Article
VL - 498
SP - 328
EP - 331
JO - Gene
JF - Gene
SN - 0378-1119
IS - 2
ER -