title: Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.
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.
authors: Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
authors: Samira
authors: S
authors: Ismail
authors: Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
authors: Ashleigh E
authors: AE
authors: Schaffer
authors: Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
authors: Rasim O
authors: RO
authors: Rosti
authors: Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
authors: Joseph G
authors: JG
authors: Gleeson
authors: Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt. Electronic address: dr_mahazaki@yahoo.com.
authors: Maha S
authors: MS
authors: Zaki
mesh_terms: D002675:Child, Preschool; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D011379:Prognosis; D058494:Walker-Warburg Syndrome / Q000235:genetics*
chemical_list: C113587:FKTN protein, human; D008565:Membrane Proteins
keywords: Cobblestone lissencephaly; Congenital muscular dystrophy; Dystroglycanopathy; Fukutin