Novel SHOX gene mutation in a short boy with Becker muscular dystrophy: double trouble in two adjacent genes |
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Authors: | Messina M F Aguennouz M Arrigo T Rodolico C Valenzise M Musumeci O Vita G Lanzano N De Luca F |
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Affiliation: | Department of Pediatrics, University of Bologna and S. Orsola-Malpighi Hospital, Bologna, Italy. |
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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. |
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