TY - JOUR
T1 - Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia
AU - Fiorillo, Chiara
AU - Moro, Francesca
AU - Astrea, Guja
AU - Morales, Maria Aurora
AU - Baldacci, Jacopo
AU - Marchese, Maria
AU - Scapolan, Sara
AU - Bruno, Claudio
AU - Battini, Roberta
AU - Santorelli, Filippo M.
PY - 2013/12
Y1 - 2013/12
N2 - Mutations in the fukutin gene were first identified in Japanese patients with classic Fukuyama congenital muscular dystrophy, a severe form of congenital muscular dystrophy associated with cobblestone lissencephaly and ocular defects. Patients of different ethnicities and with milder phenotypes, including limb girdle muscular dystrophy and cardiomyopathy without brain impairment, have also been reported. The hallmark of this disorder, regardless of the clinical outcome, is moderate-to-severe hypoglycosylation of alpha-dystroglycan in muscle sections. We describe the case of a boy harboring two novel mutations in fukutin gene and presenting a five-year history of asymptomatic hyperCKemia, without overt muscle, brain or ocular involvement. Genetic investigations, guided by the presence of moderate myopathic changes on muscle biopsy with loss of immunodetectable alpha-dystroglycan, led to a definitive diagnosis. Cardiac and echocardiographic examinations at follow-up disclosed low normal left ventricular function but no active cardiovascular symptoms. We suggest that fukutin mutations should be sought in asymptomatic hyperCKemia and subclinical heart dysfunction.
AB - Mutations in the fukutin gene were first identified in Japanese patients with classic Fukuyama congenital muscular dystrophy, a severe form of congenital muscular dystrophy associated with cobblestone lissencephaly and ocular defects. Patients of different ethnicities and with milder phenotypes, including limb girdle muscular dystrophy and cardiomyopathy without brain impairment, have also been reported. The hallmark of this disorder, regardless of the clinical outcome, is moderate-to-severe hypoglycosylation of alpha-dystroglycan in muscle sections. We describe the case of a boy harboring two novel mutations in fukutin gene and presenting a five-year history of asymptomatic hyperCKemia, without overt muscle, brain or ocular involvement. Genetic investigations, guided by the presence of moderate myopathic changes on muscle biopsy with loss of immunodetectable alpha-dystroglycan, led to a definitive diagnosis. Cardiac and echocardiographic examinations at follow-up disclosed low normal left ventricular function but no active cardiovascular symptoms. We suggest that fukutin mutations should be sought in asymptomatic hyperCKemia and subclinical heart dysfunction.
KW - Alpha-dystroglycan
KW - Cardiomyopathy
KW - Fukutin gene
KW - HyperCKemia
KW - Mutations
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UR - http://www.scopus.com/inward/citedby.url?scp=84888424127&partnerID=8YFLogxK
U2 - 10.1016/j.nmd.2013.09.010
DO - 10.1016/j.nmd.2013.09.010
M3 - Article
C2 - 24144914
AN - SCOPUS:84888424127
VL - 23
SP - 1010
EP - 1015
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
IS - 12
ER -