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

Autor(es)

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]

Afiliação do(s) autor(es)

^[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

• Tipo de documento: Artigo Científico
• Fonte: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; v. 155A, n. 10, p. 2479-2483, OCT 2011.
• Citações Web of Science: 31

Resumo

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)

• Processo FAPESP: 98/14254-2 - Centro de Estudos do Genoma Humano
• Beneficiário: Mayana Zatz
• Linha de fomento: Auxílio à Pesquisa - Centros de Pesquisa, Inovação e Difusão - CEPIDs
• Processo FAPESP: 09/00898-1 - Desequilíbrios genômicos submicroscópicos em quadros clínicos específicos de anomalias congênitas e deficiência mental
• Beneficiário: Carla Rosenberg
• Linha de fomento: Auxílio à Pesquisa - Temático
• Processo FAPESP: 09/03341-8 - Estudo genético da síndrome de Silver-Russell
• Beneficiário: Adriano Bonaldi
• Linha de fomento: Bolsas no Brasil - Mestrado