期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 52, 期 6, 页码 404-408出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2009.08.006
关键词
Beckwith-Wiedemann syndrome; Overgrowth; Silver-Rusell syndrome; Growth retardation; Imprinting; Beckwith-Wiedemann syndrome imprinted region 1 and 2; Chromosome 11p15; Methylation; Differentially methylated regions; Duplication; Translocation
We report on two families in which the parental origin of duplications of the BWS imprinted regions on chromosome 11p15 influences the phenotype. In family A the transmission of a t(4; 11)(q35; p15.5) translocation results in duplication of BWSIC1 and BWSIC2. If this duplication is transmitted from the father, the extra chromosomal material has the paternal imprint. This results in overexpression of IGF2 and consequently an overgrowth phenotype. If the duplication is transmitted from the mother, the extra chromosomal material has the maternal imprint, resulting in overexpression of CDKN1C and a growth retardation phenotype. In family B an interstitial duplication of BWSIC1 results in an overgrowth phenotype when inherited from the father, similar to family A. However, no change in phenotype is observed if the duplication is transmitted through the mother suggesting that increased dosage of maternally expressed genes in the duplicated region has limited effect on the phenotype. (C) 2009 Elsevier Masson SAS. All rights reserved.
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