The mildest known case of Fukuyama-type congenital muscular dystrophy

• Published in: Brain & development (Tokyo. 1979) Vol. 28; no. 8; pp. 537 - 540
• Main Authors: Akiyama, Tomoyuki, Ohtsuka, Yoko, Takata, Tsutomu, Hattori, Junri, Kawakita, Yukiko, Saito, Kayoko
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.09.2006
• Subjects: Adolescent; Brain malformation; Clinical spectrum; DNA Mutational Analysis - methods; Electroencephalography - methods; Epilepsy; Fukuyama-type congenital muscular dystrophy; Humans; Magnetic Resonance Imaging - methods; Male; Membrane Proteins - genetics; Mental Disorders - etiology; Molecular genetic analysis; Muscle Weakness - etiology; Muscular Dystrophies - congenital; Muscular Dystrophies - genetics; Muscular Dystrophies - physiopathology; Mutation; West syndrome; Fukuyama-type congenital muscular dystrophy; Brain malformation; West syndrome; Clinical spectrum; Molecular genetic analysis; Epilepsy
• ISSN: 0387-7604; 1872-7131
• DOI: 10.1016/j.braindev.2006.02.003

We present a 14-year-old boy with Fukuyama-type congenital muscular dystrophy (FCMD) who shows the mildest muscle weakness ever reported with this affliction and exceptionally mild mental retardation, but who has intractable epilepsy. Magnetic resonance imaging showed the typical abnormalities of FCMD. Molecular genetic analyses revealed a 3 kb insertion mutation in the fukutin gene heterozygously. We could find no mutation in the coding region of the fukutin gene in the chromosome without a 3 kb insertion. The most probable mechanism of clinical manifestation in this patient could be either a mutation in the noncoding regions of the fukutin gene on the chromosome without the ancestral founder haplotype of FCMD, or an error in the process of transcription or translation. Another possibility is the abnormalities in other genes involved in the glycosylation of α-dystroglycan, such as Fukutin-related protein and LARGE genes.