Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
Six genes including POMT1, POMT2, POMGNT1, FKRP, Fukutin (FKTN) and LARGE encode proteins involved in the glycosylation of α-dystroglycan (α-DG). Abnormal glycosylation of α-DG is a common finding in Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB), Fukuyama congenital muscular dystrophy (FCMD), congenital muscular dystrophy types 1C and 1D and some forms of autosomal recessive limb-girdle muscular dystrophy (LGMD2I, LGMD2K, LGMD2M), and is associated with mutations in the above genes. FCMD, caused by mutations in Fukutin (FKTN), is most frequent in Japan, but an increasing number of FKTN mutations are being reported outside of Japan. We describe four new patients with FKTN mutations and phenotypes ranging from: severe WWS in a Greek-Croatian patient, to congenital muscular dystrophy and cobblestone lissencephaly resembling MEB-FCMD in two Turkish patients, and limb-girdle muscular dystrophy and no mental retardation in a German patient. Four of the five different FKTN mutations have not been previously described.
Yis
Uluc
U
Gaziantep Children's Hospital, Department of Pediatric Neurology, Gaziantep, Turkey.
Uyanik
Gökhan
G
Heck
Pinar Bambul
PB
Smitka
Martin
M
Nobel
Hannes
H
Ebinger
Friedrich
F
Dirik
Eray
E
Feng
Lucy
L
Kurul
Semra H
SH
Brocke
Katja
K
Unalp
Aycan
A
Özer
Erdener
E
Cakmakci
Handan
H
Sewry
Caroline
C
Cirak
Sebahattin
S
Muntoni
Francesco
F
Hehr
Ute
U
Morris-Rosendahl
Deborah J
DJ
D002531:Cerebellum / Q000473:pathology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007438:Introns / Q000235:genetics; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital* / Q000208:ethnology / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009460:Neurologic Examination; D010641:Phenotype; D012720:Severity of Illness Index; D058494:Walker-Warburg Syndrome / Q000235:genetics / Q000503:physiopathology
C113587:FKTN protein, human; D008565:Membrane Proteins