| Full text | |
| Author(s): |
Bonaldi, Adriano
[1]
;
Mazzeu, Juliana F.
[2]
;
Costa, Silvia S.
[1]
;
Honjo, Rachel S.
[3]
;
Bertola, Debora R.
[3]
;
Albano, Lilian M. J.
[3]
;
Furquim, Isabel M.
[3]
;
Kim, Chong A.
[3]
;
Vianna-Morgante, Angela M.
[1]
Total Authors: 9
|
| Affiliation: | [1] Univ Sao Paulo, Inst Biociencias, Dept Genet & Biol Evolut, BR-05422970 Sao Paulo - Brazil
[2] Univ Brasilia, Inst Ciencias Biol, Dept Genet & Morfol, Brasilia, DF - Brazil
[3] Univ Sao Paulo, Inst Crianca, Unidade Genet, BR-05422970 Sao Paulo - Brazil
Total Affiliations: 3
|
| Document type: | Journal article |
| Source: | AMERICAN JOURNAL OF MEDICAL GENETICS PART A; v. 155A, n. 10, p. 2479-2483, OCT 2011. |
| Web of Science Citations: | 30 |
| Abstract | |
Silver-Russell syndrome (SRS) is characterized by severe intrauterine and postnatal growth retardation in association with a typical small triangular face and other variable features. Genetic and epigenetic disturbances are detected in about 50% of the patients. Most frequently, SRS is caused by altered gene expression on chromosome 11p15 due to hypomethylation of the telomeric imprinting center (ICR1) that is present in at least 40% of the patients. Maternally inherited duplications encompassing ICR1 and ICR2 domains at 11p15 were found in a few patients, and a microduplication restricted to ICR2 was described in a single SRS child. We report on a microduplication of the ICR2 domain encompassing the KCNQ1, KCNQ1OT1, and CDKN1C genes in a three-generation family: there were four instances of paternal transmissions of the microduplication from a single male uniformly resulting in normal offspring, and five maternal transmissions, via two clinically normal sisters, with all the children exhibiting SRS. This report provides confirmatory evidence that a microduplication restricted to the ICR2 domain results in SRS when maternally transmitted. (C) 2011 Wiley-Liss, Inc. (AU) | |
| FAPESP's process: | 09/00898-1 - Submicroscopic genomic imbalances associated with specific congenital abnormalities and mental deficiency phenotypes |
| Grantee: | Carla Rosenberg |
| Support Opportunities: | Research Projects - Thematic Grants |
| FAPESP's process: | 09/03341-8 - Genetic study on Silver-Russell syndrome |
| Grantee: | Adriano Bonaldi |
| Support Opportunities: | Scholarships in Brazil - Master |
| FAPESP's process: | 98/14254-2 - The Human Genome Research Center |
| Grantee: | Mayana Zatz |
| Support Opportunities: | Research Grants - Research, Innovation and Dissemination Centers - RIDC |