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Duplication of 7q36.3 encompassing the Sonic Hedgehog (SHH) gene is associated with congenital muscular hypertrophy

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Kroeldrup, L ; Kjaergaard, S ; Kirchhoff, Eva Maria ; Kock, Kirsten Friis ; Brasch-Andersen, Charlotte ; Kibaek, M ; Ousager, Lilian Bomme. / Duplication of 7q36.3 encompassing the Sonic Hedgehog (SHH) gene is associated with congenital muscular hypertrophy. In: European Journal of Medical Genetics. 2012 ; Vol. 55, No. 10. pp. 557-60.

Bibtex

@article{837e4a3fbc5d46ff8552efc96d075858,
title = "Duplication of 7q36.3 encompassing the Sonic Hedgehog (SHH) gene is associated with congenital muscular hypertrophy",
abstract = "Muscular hypertrophy is a very rare finding on foetal ultrasonography. We present a case with recurrent muscular hypertrophy, liver enlargement and polyhydramnios in two pregnancies. One pregnancy was terminated due to suspicion of a storage disease, whereas the other led to delivery of a boy with muscular hypertrophy and mildly retarded psychomotor development. Array-CGH identified a small duplication of 7q36.3 including the Sonic Hedgehog (SHH) gene in both the aborted foetus and the live born male sib. Neither of the parents carried the 7q36.3 duplication. The consequences of overexpression of SHH in humans are not elucidated, but animal studies have suggested its importance in muscular hypertrophy. We suggest that the clinical findings in the presented case might be explained by the duplication and presumed overexpression of SHH.",
author = "L Kroeldrup and S Kjaergaard and Kirchhoff, {Eva Maria} and Kock, {Kirsten Friis} and Charlotte Brasch-Andersen and M Kibaek and Ousager, {Lilian Bomme}",
note = "Copyright {\circledC} 2012 Elsevier Masson SAS. All rights reserved.",
year = "2012",
doi = "10.1016/j.ejmg.2012.04.009",
language = "English",
volume = "55",
pages = "557--60",
journal = "European Journal of Medical Genetics",
issn = "1769-7212",
publisher = "Elsevier France Editions Scientifiques et Medicales",
number = "10",

}

RIS

TY - JOUR

T1 - Duplication of 7q36.3 encompassing the Sonic Hedgehog (SHH) gene is associated with congenital muscular hypertrophy

AU - Kroeldrup, L

AU - Kjaergaard, S

AU - Kirchhoff, Eva Maria

AU - Kock, Kirsten Friis

AU - Brasch-Andersen, Charlotte

AU - Kibaek, M

AU - Ousager, Lilian Bomme

N1 - Copyright © 2012 Elsevier Masson SAS. All rights reserved.

PY - 2012

Y1 - 2012

N2 - Muscular hypertrophy is a very rare finding on foetal ultrasonography. We present a case with recurrent muscular hypertrophy, liver enlargement and polyhydramnios in two pregnancies. One pregnancy was terminated due to suspicion of a storage disease, whereas the other led to delivery of a boy with muscular hypertrophy and mildly retarded psychomotor development. Array-CGH identified a small duplication of 7q36.3 including the Sonic Hedgehog (SHH) gene in both the aborted foetus and the live born male sib. Neither of the parents carried the 7q36.3 duplication. The consequences of overexpression of SHH in humans are not elucidated, but animal studies have suggested its importance in muscular hypertrophy. We suggest that the clinical findings in the presented case might be explained by the duplication and presumed overexpression of SHH.

AB - Muscular hypertrophy is a very rare finding on foetal ultrasonography. We present a case with recurrent muscular hypertrophy, liver enlargement and polyhydramnios in two pregnancies. One pregnancy was terminated due to suspicion of a storage disease, whereas the other led to delivery of a boy with muscular hypertrophy and mildly retarded psychomotor development. Array-CGH identified a small duplication of 7q36.3 including the Sonic Hedgehog (SHH) gene in both the aborted foetus and the live born male sib. Neither of the parents carried the 7q36.3 duplication. The consequences of overexpression of SHH in humans are not elucidated, but animal studies have suggested its importance in muscular hypertrophy. We suggest that the clinical findings in the presented case might be explained by the duplication and presumed overexpression of SHH.

U2 - 10.1016/j.ejmg.2012.04.009

DO - 10.1016/j.ejmg.2012.04.009

M3 - Journal article

VL - 55

SP - 557

EP - 560

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

SN - 1769-7212

IS - 10

ER -

ID: 36820035