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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Microduplication of the ICR2 Domain at Chromosome 11p15 and Familial Silver-Russell Syndrome

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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
[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

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: 98/14254-2 - The Human Genome Research Center
Grantee:Mayana Zatz
Support type: Research Grants - Research, Innovation and Dissemination Centers - RIDC
FAPESP's process: 09/00898-1 - Submicroscopic genomic imbalances associated with specific congenital abnormalities and mental deficiency phenotypes
Grantee:Carla Rosenberg
Support type: Research Projects - Thematic Grants
FAPESP's process: 09/03341-8 - Genetic study on Silver-Russell syndrome
Grantee:Adriano Bonaldi
Support type: Scholarships in Brazil - Master