Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions

J. Bliek; S. Snijder; S. M. maas; A. Polstra; K. van der Lip; M. Alders; A. C. Knegt; M. M. A. M. Mannens

doi:https://doi.org/10.1016/j.ejmg.2009.08.006

Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions

J. Bliek, S. Snijder, S. M. maas, A. Polstra, K. van der Lip, M. Alders, A. C. Knegt, M. M. A. M. Mannens

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Abstract

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

Original language	English
Pages (from-to)	404-408
Journal	European journal of medical genetics
Volume	52
Issue number	6
DOIs	https://doi.org/10.1016/j.ejmg.2009.08.006
Publication status	Published - 2009

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https://doi.org/10.1016/j.ejmg.2009.08.006

Cite this

@article{8f51cef4c33743638d9b9e159f4e3366,

title = "Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions",

abstract = "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",

author = "J. Bliek and S. Snijder and maas, {S. M.} and A. Polstra and {van der Lip}, K. and M. Alders and Knegt, {A. C.} and Mannens, {M. M. A. M.}",

year = "2009",

doi = "https://doi.org/10.1016/j.ejmg.2009.08.006",

language = "English",

volume = "52",

pages = "404--408",

journal = "European journal of medical genetics",

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TY - JOUR

T1 - Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions

AU - Bliek, J.

AU - Snijder, S.

AU - maas, S. M.

AU - Polstra, A.

AU - van der Lip, K.

AU - Alders, M.

AU - Knegt, A. C.

AU - Mannens, M. M. A. M.

PY - 2009

Y1 - 2009

N2 - 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

AB - 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

U2 - https://doi.org/10.1016/j.ejmg.2009.08.006

DO - https://doi.org/10.1016/j.ejmg.2009.08.006

M3 - Article

C2 - 19735747

SN - 1769-7212

VL - 52

SP - 404

EP - 408

JO - European journal of medical genetics

JF - European journal of medical genetics

IS - 6

ER -