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 b...

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Bibliographic Details
Published in:European journal of medical genetics 2012-10, Vol.55 (10), p.557-560
Main Authors: Kroeldrup, L, Kjaergaard, S, Kirchhoff, M, Kock, K, Brasch-Andersen, C, Kibaek, M, Ousager, L.B
Format: Article
Language:English
Subjects:
7q36.3
Aborted Fetus - abnormalities
Array-CGH
Chromosome Duplication - genetics
Chromosomes, Human, Pair 7 - genetics
Duplication
Female
Hedgehog Proteins - genetics
Hepatomegaly - genetics
Humans
Infant, Newborn
Male
Medical Education
Muscles - abnormalities
Muscular Diseases - diagnostic imaging
Muscular Diseases - genetics
Muscular hypertrophy
Polyhydramnios - genetics
Pregnancy
SHH
Siblings
Sonic Hedgehog
Ultrasonography, Prenatal
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Summary: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.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2012.04.009