Short stature is a well recognized feature of Duchenne muscular dystrophy (DMD), whilst it has been reported rarely in Becker muscular dystrophy (BMD). Here we report two brothers with BMD, who exhibited a very different growth pattern. Whereas in the short brother (-2.2 SDS) molecular investigation revealed a G367A mutation in Short Stature Homeobox Containing (SHOX) gene located on Xp22.3 region, no abnormalitiy was found in the brother with normal height (-0.1 SDS). Our data suggest that abnormal growth observed in a boy with BMD may be related to an additional genetic alteration, already known as correlated with short stature.
Novel SHOX Gene Mutation in a Short Boy with Becker Muscular Dystrophy: Double Trouble in Two Adjacent Genes.
MESSINA, Maria Francesca;AGUENNOUZ, M'hammed;ARRIGO, Teresa;RODOLICO, Carmelo;VALENZISE, Mariella;MUSUMECI, Olimpia;VITA, Giuseppe;DE LUCA, Filippo
2008-01-01
Abstract
Short stature is a well recognized feature of Duchenne muscular dystrophy (DMD), whilst it has been reported rarely in Becker muscular dystrophy (BMD). Here we report two brothers with BMD, who exhibited a very different growth pattern. Whereas in the short brother (-2.2 SDS) molecular investigation revealed a G367A mutation in Short Stature Homeobox Containing (SHOX) gene located on Xp22.3 region, no abnormalitiy was found in the brother with normal height (-0.1 SDS). Our data suggest that abnormal growth observed in a boy with BMD may be related to an additional genetic alteration, already known as correlated with short stature.Pubblicazioni consigliate
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