Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.

doi:10.1038/s41598-021-82778-0

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Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.

Scientific reports - 5 Feb 2021

Mahdieh Nejat, Soveizi Mahdieh, Tavasoli Ali Reza, Rabbani Ali, Ashrafi Mahmoud Reza, Kohlschütter Alfried, Rabbani Bahareh

Abstract excerpt

This study evaluates the genetic spectrum of leukodystrophies and leukoencephalopathies in Iran. 152 children, aged from 1 day to 15 years, were genetically tested for leukodystrophies and leukoencephalopathies based on clinical and neuroradiological findings from 2016 to 2019. Patients with a suggestive specific leukodystrophy, e. g. metachromatic leukodystrophy, Canavan disease, Tay-Sachs disease were tested...

Topics

Adolescent
Canavan Disease
Child
Child, Preschool
Female
Genetic Testing
Hereditary Central Nervous System Demyelinating Diseases
Humans
Infant
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Iran

Leukodystrophy, Globoid Cell

Leukodystrophy, Metachromatic

Leukoencephalopathies

Male

Mutation

Source

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Identifiers

PMID: 33547378
DOI: 10.1038/s41598-021-82778-0
PMCID: PMC7864965

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