Balkan Journal of Medical Genetics

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

INTRODUCTION

Megalencephalic leukoencephalopathy (MLC) with subcortical cysts (MIM #604004) is an autosomal recessive neurological disorder characterized by early onset macrocephaly, epilepsy, neurological deterioration with cerebellar ataxia and spasticity [1]. The majority of MLC cases (~75.0%) are associated with MLC1 gene mutations and in a few patients (~20.0%) is associated with HEPACAM gene mutations [2]. In this study, we present a novel homozygous c.768+2T>C (IVS9+2T>C) splicesite mutation in the MLC1 gene in a Turkish boy and a functional study showing exon 9 skipping.

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