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

L Kroeldrup; S Kjaergaard; Eva Maria Kirchhoff; Kirsten Friis Kock; Charlotte Brasch-Andersen; M Kibaek; Lilian Bomme Ousager

doi:10.1016/j.ejmg.2012.04.009

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

L Kroeldrup, S Kjaergaard, Eva Maria Kirchhoff, Kirsten Friis Kock, Charlotte Brasch-Andersen, M Kibaek, Lilian Bomme Ousager

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

9 Citationer (Scopus)

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.

Originalsprog	Engelsk
Tidsskrift	European Journal of Medical Genetics
Vol/bind	55
Udgave nummer	10
Sider (fra-til)	557-60
Antal sider	4
ISSN	1769-7212
DOI	https://doi.org/10.1016/j.ejmg.2012.04.009
Status	Udgivet - 2012

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Citationsformater

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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}",

year = "2012",

doi = "10.1016/j.ejmg.2012.04.009",

language = "English",

volume = "55",

pages = "557--60",

journal = "European Journal of Medical Genetics",

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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

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

C2 - 22683912

SN - 1769-7212

VL - 55

SP - 557

EP - 560

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

IS - 10

ER -