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Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts

Kariminejad, A. and Rajaee, A. and Ashrafi, M.R. and Alizadeh, H. and Tonekaboni, S.H. and Malamiri, R.A. and Ghofrani, M. and Karimzadeh, P. and Mohammadi, M.M. and Baghalshooshtari, A. and Bozorgmehr, B. and Kariminejad, M.H. and Postma, N. and Abbink, T.E.M. and van der Knaap, M.S. (2015) Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts. European Journal of Medical Genetics, 58 (2). pp. 71-74.

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Megalencephalic leukoencephalopathy with subcortical cysts (MLC) (MIM #. 604004) is a rare autosomal recessive neurological disorder characterized by macrocephaly, motor and cognitive decline, ataxia, spasticity and occasional seizures. Magnetic resonance imaging (MRI) shows diffusely abnormal and swollen white matter of the cerebral hemispheres and subcortical cysts in the anterior temporal and frontoparietal region. Mutations in MLC1(22q13.33) and GLIALCAM have been identified in patients with MLC. Mutations in MLC1 account for approximately 75 of the cases.MLC was suspected in eighteen Iranian patients from sixteen families based on positive clinical findings including macrocephaly beginning in the first year, neurocognitive deterioration, seizure or loss of consciousness after minor head trauma. All except two were born to consanguineous parents. Brain MRI images were compatible with MLC and confirmed the diagnosis. Sequencing of entire coding region of MLC1 was performed for seventeen patients and mutations in MLC1 were detected in all of them. Eight novel mutations and seven previously reported mutations were identified. This report shows that MLC is relatively common in Iranian population, as expected for rare diseases with high inbreeding, with a surprisingly high frequency of novel mutations. © 2014 Elsevier Masson SAS.

Item Type: Article
Additional Information: cited By 1
Uncontrolled Keywords: adolescent; adult; Alexander disease; Article; ataxia; brain cyst; child; clinical article; dysmetria; female; frameshift mutation; gene; gene mutation; head injury; hemisphere; homozygosity; human; infant; Iranian people; macrocephaly; male; mental deterioration; missense mutation; MLC1 gene; neuroimaging; nuclear magnetic resonance imaging; onset age; open reading frame; preschool child; rare disease; school child; seizure; spasticity; start codon; subcortical cyst; tremor; unconsciousness; white matter; cyst; demyelinating disease; genetics; Iran; molecular genetics; mutation; young adult, membrane protein; MLC1 protein, human, Adult; Child; Child, Preschool; Cysts; Female; Hereditary Central Nervous System Demyelinating Diseases; Humans; Infant; Iran; Male; Membrane Proteins; Molecular Sequence Data; Mutation; Young Adult
Subjects: مقالات نمایه شده محققین دانشگاه در سایت ,Web of Science ,Scopus
Divisions: معاونت تحقیقات و فناوری
Depositing User: GOUMS
Date Deposited: 10 Sep 2016 05:09
Last Modified: 10 Sep 2016 05:09
URI: http://eprints.goums.ac.ir/id/eprint/4700

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