Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly |
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Authors: | Samira Ismail Ashleigh E Schaffer Rasim O Rosti Joseph G Gleeson Maha S Zaki |
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Institution: | 1. Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt;2. Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA |
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Abstract: | Fukuyama-type congenital muscular dystrophy (FCMD, MIM#253800) is an autosomal recessive disorder characterized by severe muscular dystrophy associated with brain malformations. FCMD is the second most common form of muscular dystrophy after Duchenne muscular dystrophy and one of the most common autosomal recessive diseases among the Japanese population, and yet few patients outside of Japan had been reported with this disorder. We report the first known Egyptian patient with FCMD, established by clinical features of generalized weakness, pseudohypertrophy of calf muscles, progressive joint contractures, severe scoliosis, elevated serum creatine kinase level, myopathic electrodiagnostic changes, brain MRI with cobblestone complex, and mutation in the fukutin gene. In addition, our patient displayed primary microcephaly, not previously reported associated with fukutin mutations. Our results expand the geographic and clinical spectrum of fukutin mutations. |
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Keywords: | FCMD Fukuyama-type congenital muscular dystrophy LGMD limb-girdle muscular dystrophy WWS Walker&ndash Warburg syndrome MEB Muscle&ndash eye&ndash brain disease CMD congenital muscular dystrophy MRI Magnetic Resonance Image EMG electromyography EEG electroencephalogram MUPs motor unit potentials WPPSI Wechsler Preschool and Primary Scale of Intelligence SQ social quotient IRB Institutional Review Board GATK The Genome Analysis Toolkit UTR untranslated region |
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