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

Lone Krøldrup Kristensen, S Kjaergaard, Marianne Kirchhoff, K Kock, Charlotte Brasch Andersen, Maria Kibæk, L B Ousager

Research output: Contribution to journalJournal articleResearchpeer-review

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.
Original languageEnglish
JournalEuropean Journal of Medical Genetics
Volume55
Issue number10
Pages (from-to)557-60
Number of pages4
ISSN1769-7212
DOIs
Publication statusPublished - 2012

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