1. Novel SHOX gene mutation in a short boy with Becker muscular dystrophy: double trouble in two adjacent genes.
- Author
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Messina MF, Aguennouz M, Arrigo T, Rodolico C, Valenzise M, Musumeci O, Vita G, Lanzano N, and De Luca F
- Subjects
- Base Sequence, Child, Child, Preschool, DNA Mutational Analysis, Humans, Mutation, Short Stature Homeobox Protein, Growth Disorders genetics, Homeodomain Proteins genetics, Muscular Dystrophy, Duchenne genetics
- Abstract
Short stature is a well-recognized feature of Duchenne muscular dystrophy, 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 the short stature homeobox containing (SHOX) gene located in the Xp22.3 region, no abnormality 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., ((c) 2007 S. Karger AG, Basel)
- Published
- 2008
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