Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish population.
Megalencephalic leukoencephalopathy with subcortical cysts is a rare leukodystrophy that is characterized by macrocephaly and a slowly progressive clinical course. It is one of the most commonly reported leukoencephalopathies in Turkey. Mutations in the MLC1 gene are the main cause of the disease. We report two patients with megalencephalic leukoencephalopathy with subcortical cysts with confirmed mutations in the MLC1 gene. The mutation in the second patient was novel. We also review identified mutations in the Turkish population.
Yiş
Uluç
U
Division of Child Neurology, Gaziantep Children's Hospital, Gaziantep, Turkey.
Scheper
Gert C
GC
Uran
Nedret
N
Unalp
Aycan
A
Cakmakçi
Handan
H
Hiz-Kurul
Semra
S
Dirik
Eray
E
van der Knaap
Marjo S
MS
D001927:Brain Diseases / Q000175:diagnosis / Q000235:genetics*; D020863:Central Nervous System Cysts / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D005260:Female; D006801:Humans; D056784:Leukoencephalopathies / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D014421:Turkey
C425069:MLC1 protein, human; D008565:Membrane Proteins