Novel SHOX gene mutation in a short boy with Becker muscular dystrophy: double trouble in two adjacent genes.
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.
Messina
M F
MF
Department of Pediatrics, Psychiatry and Anesthesiology, University of Messina, Messina, Italy.
Aguennouz
M
M
Arrigo
T
T
Rodolico
C
C
Valenzise
M
M
Musumeci
O
O
Vita
G
G
Lanzano
N
N
De Luca
F
F
D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006130:Growth Disorders / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D009154:Mutation; D000074122:Short Stature Homeobox Protein
D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein