Repository of Research and Investigative Information

Repository of Research and Investigative Information

Ilam University of Medical Sciences

High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry

Wed Apr 17 20:32:40 2024

(2023) High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry. Neurogenetics. p. 11. ISSN 1364-6745

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Abstract

Leukodystrophies (LDs) are a heterogeneous group of progressive neurological disorders and characterized by primary involvement of white matter of the central nervous system (CNS). This is the first report of the Iranian LD Registry database to describe the clinical, radiological, and genomic data of Persian patients with leukodystrophies. From 2016 to 2019, patients suspicious of LDs were examined followed by a brain magnetic resonance imaging (MRI). A single gene testing or whole-exome sequencing (WES) was used depending on the neuroradiologic phenotypes. In a few cases, the diagnosis was made by metabolic studies. Based on the MRI pattern, diagnosed patients were divided into cohorts A (hypomyelinating LDs) versus cohort B (Other LDs). The most recent LD classification was utilized for classification of diagnosed patients. For novel variants, in silico analyses were performed to verify their pathogenicity. Out of 680 registered patients, 342 completed the diagnostic evaluations. In total, 245 patients met a diagnosis which in turn 24.5 were categorized in cohort A and the remaining in cohort B. Genetic tests revealed causal variants in 228 patients consisting of 213 variants in 110 genes with 78 novel variants. WES and single gene testing identified a causal variant in 65.5 and 34.5 cases, respectively. The total diagnostic rate of WES was 60.7. Lysosomal disorders (27.3; GM2-gangliosidosis-9.8, MLD-6.1, KD-4.5), amino and organic acid disorders (17.15; Canavan disease-4.5, L-2-HGA-3.6), mitochondrial leukodystrophies (12.6), ion and water homeostasis disorders (7.3; MLC-4.5), peroxisomal disorders (6.5; X-ALD-3.6), and myelin protein disorders (3.6; PMLD-3.6) were the most commonly diagnosed disorders. Thirty-seven percent of cases had a pathogenic variant in nine genes (ARSA, HEXA, ASPA, MLC1, GALC, GJC2, ABCD1, L2HGDH, GCDH). This study highlights the most common types as well as the genetic heterogeneity of LDs in Iranian children.

Item Type: Article
Creators:
CreatorsEmail
Ashrafi, M.UNSPECIFIED
Kameli, R.UNSPECIFIED
Hosseinpour, S.UNSPECIFIED
Razmara, E.UNSPECIFIED
Zamani, Z.UNSPECIFIED
Rezaei, Z.UNSPECIFIED
Mashayekhi, R.UNSPECIFIED
Pak, N.UNSPECIFIED
Barzegar, M.UNSPECIFIED
Azizimalamiri, R.UNSPECIFIED
Kashani, M. R.UNSPECIFIED
Khosroshahi, N.UNSPECIFIED
Rasulinezhad, M.UNSPECIFIED
Heidari, M.UNSPECIFIED
Amanat, M.UNSPECIFIED
Abdi, A.UNSPECIFIED
Mohammadi, B.UNSPECIFIED
Mohammadi, M.UNSPECIFIED
Zamani, G. R.UNSPECIFIED
Badv, R. S.UNSPECIFIED
Omrani, A.UNSPECIFIED
Nikbakht, S.UNSPECIFIED
Bereshneh, A. H.UNSPECIFIED
Movahedinia, M.UNSPECIFIED
Moghaddam, H. F.UNSPECIFIED
Ardakani, H. S.UNSPECIFIED
Akbari, M. G.UNSPECIFIED
Tousi, M. B.UNSPECIFIED
Shahi, M. V.UNSPECIFIED
Hosseini, F.UNSPECIFIED
Amouzadeh, M. H.UNSPECIFIED
Hosseini, S. A.UNSPECIFIED
Nikkhah, A.UNSPECIFIED
Khajeh, A.UNSPECIFIED
Alizadeh, H.UNSPECIFIED
Yarali, B.UNSPECIFIED
Rohani, M.UNSPECIFIED
Karimi, P.UNSPECIFIED
Elahi, H. M. L.UNSPECIFIED
Hosseiny, S. M. M.UNSPECIFIED
Sadeghzadeh, M. S.UNSPECIFIED
Mohebbi, H.UNSPECIFIED
Moghadam, M. H.UNSPECIFIED
Aryan, H.UNSPECIFIED
Vahidnezhad, H.UNSPECIFIED
Soveizi, M.UNSPECIFIED
Rabbani, B.UNSPECIFIED
Rabbani, A.UNSPECIFIED
Mahdieh, N.UNSPECIFIED
Garshasbi, M.UNSPECIFIED
Tavasoli, A. R.UNSPECIFIED
Keywords: Consanguinity Leukodystrophy Magnetic resonance imaging Single gene test Variants Whole-exome sequencing white-matter disorders relative incidence childhood classification diagnosis update system tool Genetics & Heredity Neurosciences & Neurology
Divisions:
Page Range: p. 11
Journal or Publication Title: Neurogenetics
Journal Index: ISI
Identification Number: https://doi.org/10.1007/s10048-023-00730-y
ISSN: 1364-6745
Depositing User: مهندس مهدی شریفی
URI: http://eprints.medilam.ac.ir/id/eprint/4486

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