title: A new mutation of the fukutin gene in a non-Japanese patient.
abstract: Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome, and muscle-eye-brain disease are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, cobblestone lissencephaly, and eye anomalies. FCMD is frequent in Japan, but no FCMD patient with confirmed fukutin gene mutations has been identified in a non-Japanese population. Here, we describe a Turkish CMD patient with severe brain and eye anomalies. Sequence analysis of the patient's DNA identified a homozygous 1bp insertion mutation in exon 5 of the fukutin gene. To our knowledge, this is the first case worldwide in which a fukutin mutation has been found outside the Japanese population. This report emphasizes the importance of considering fukutin mutations for diagnostic purposes outside of Japan.
authors.affiliation: Department of Medical Biology, Abant Izzet Baysal University Duzce Medical Faculty, Duzce, Turkey.
authors.forename: Fatma
authors.initials: F
authors.lastname: Silan
authors.forename: Mieko
authors.initials: M
authors.lastname: Yoshioka
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Kobayashi
authors.forename: Enver
authors.initials: E
authors.lastname: Simsek
authors.forename: Murat
authors.initials: M
authors.lastname: Tunc
authors.forename: Murat
authors.initials: M
authors.lastname: Alper
authors.forename: Meryem
authors.initials: M
authors.lastname: Cam
authors.forename: Aysel
authors.initials: A
authors.lastname: Guven
authors.forename: Yoji
authors.initials: Y
authors.lastname: Fukuda
authors.forename: Moritoshi
authors.initials: M
authors.lastname: Kinoshita
authors.forename: Kenan
authors.initials: K
authors.lastname: Kocabay
authors.forename: Tatsushi
authors.initials: T
authors.lastname: Toda
mesh_terms: D000595:Amino Acid Sequence; D005260:Female; D006801:Humans; D007223:Infant; D007564:Japan; D008297:Male; D008565:Membrane Proteins; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D011859:Radiography
chemical_list: C113587:FKTN protein, human; D008565:Membrane Proteins; D011506:Proteins