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

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dc.contributor Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.author BONALDI, Adriano
MAZZEU, Juliana F.
COSTA, Silvia S.
HONJO, Rachel S. FMUSP-HC
BERTOLA, Debora R. FMUSP-HC
ALBANO, Lilian M. J.
FURQUIM, Isabel M.
KIM, Chong A. FMUSP-HC
VIANNA-MORGANTE, Angela M.
dc.date.issued 2011
dc.identifier.citation AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.155A, n.10, p.2479-2483, 2011
dc.identifier.issn 1552-4825
dc.identifier.uri http://observatorio.fm.usp.br/handle/OPI/23832
dc.description.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.
dc.description.sponsorship · FAPESP (CEPID-Human Genome Study Center) [98/14254-2, 2009/00898-1, 2009/03341-8]
· CAPES
dc.language.iso eng
dc.publisher WILEY-BLACKWELL
dc.relation.ispartof American Journal of Medical Genetics Part A
dc.rights restrictedAccess
dc.subject CDKN1C; 11p15 microduplication; ICR2 (KvDMR1); Silver-Russell syndrome
dc.subject.other beckwith-wiedemann-syndrome; imprinting center region; growth-retardation; duplications; phenotype
dc.title Microduplication of the ICR2 Domain at Chromosome 11p15 and Familial Silver-Russell Syndrome
dc.type article
dc.rights.holder Copyright WILEY-BLACKWELL
dc.description.group LIM/36
dc.identifier.doi 10.1002/ajmg.a.34023
dc.identifier.pmid 21910219
dc.type.category original article
dc.type.version publishedVersion
hcfmusp.author HONJO, Rachel S.:FM:
hcfmusp.author BERTOLA, Debora R.:HC:ICR
hcfmusp.author KIM, Chong A.:HC:ICR
hcfmusp.author.external · BONALDI, Adriano:Univ Sao Paulo, Inst Biociencias, Dept Genet & Biol Evolut, BR-05422970 Sao Paulo, Brazil
· MAZZEU, Juliana F.:Univ Brasilia, Inst Ciencias Biol, Dept Genet & Morfol, Brasilia, DF, Brazil
· COSTA, Silvia S.:Univ Sao Paulo, Inst Biociencias, Dept Genet & Biol Evolut, BR-05422970 Sao Paulo, Brazil
· ALBANO, Lilian M. J.:Univ Sao Paulo, Inst Crianca, Unidade Genet, BR-05422970 Sao Paulo, Brazil
· FURQUIM, Isabel M.:Univ Sao Paulo, Inst Crianca, Unidade Genet, BR-05422970 Sao Paulo, Brazil
· VIANNA-MORGANTE, Angela M.:Univ Sao Paulo, Inst Biociencias, Dept Genet & Biol Evolut, BR-05422970 Sao Paulo, Brazil
hcfmusp.origem.id WOS:000295326300022
hcfmusp.origem.id 2-s2.0-80053112538
hcfmusp.publisher.city MALDEN
hcfmusp.publisher.country USA
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dc.description.index MEDLINE
hcfmusp.citation.scopus 34
hcfmusp.citation.wos 30
hcfmusp.affiliation.country Brasil


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