A NOVEL SPLICE-SITE MUTATION ON THE MLC1 GENE
LEADING TO EXON 9 SKIPPING AND MEGALENCEPHALIC
LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
IN A TURKISH PATIENT
Türkyılmaz A1,*, Ünver O2, Ekinci G3, Türkdoğan D2
*Corresponding Author: Ayberk Türkyılmaz, M.D., Department of Medical Genetics, Marmara University
School of Medicine, Fevzi Çakmak Quarter Muhsin Yazıcıoğlu Street No. 10 Üst Kaynarca, Pendik,
İstanbul, Turkey. Tel: +90-505-812-0334. Fax: +90-216-625-4545. E-mail: ayberkturkyilmaz@gmail.com
page: 89
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REFERENCES
1. van der Knaap MS, Barth PG, Stroink H, van Nieuwenhuizen
O, Arts WF, Hoogenraad F, et al. Leukoencephalopathy
with swelling and a discrepantly mild
clinical course in eight children. Ann Neurol. 1995;
37(3): 324-334.
2. Choi SA, Kim SY, Yoon J, Choi J, Park SS, Seong
MW, et al. A unique mutational spectrum of MLC1
in Korean patients with megalencephalic leukoencephaopalopathy
with subcortical cysts: p.Ala275Asp
founder mutation and maternal uniparental disomy of
chromosome 22. Ann Lab Med. 2017; 37(6): 516-521.
3. van der Voorn JP, Pouwels PJ, Hart AA, Serrarens J,
Willemsen MA, Kremer HP, et al. Childhood white
matter disorders: Quantitative MR imaging and spectroscopy.
Radiology. 2006; 241(2): 510-517.
4. Sugiura C, Shiota M, Maegaki Y, Yoshida K, Koeda
T, Kitahara T, et al. Late-onset neuropsychological
symptoms in a Japanese patient with megalencephalic
leuko-encephalopathy with subcortical cysts. Neuropediatrics.
2006; 37(5): 286-290.
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