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Article
Open AccessBiallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessi...
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Article
Open AccessRecessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III
A small proportion of 4H (Hypomyelination, Hypodontia and Hypogonadotropic Hypogonadism) or RNA polymerase III (POLR3)-related leukodystrophy cases are negative for mutations in the previously identified causa...
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Article
Open AccessLarge exonic deletions in POLRB gene cause POLR3-related leukodystrophy
POLR3-related (or 4H) leukodystrophy is an autosomal recessive disorder caused by mutations in POLR3A or POLR3B and is characterized by neurological and non-neurological features. In a small proportion of patient...
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Article
Open AccessNeurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy
Pol III-related leukodystrophies, including 4H leukodystrophy, are recently recognized disorders that comprise hypomyelination and various neurologic and non-neurologic clinical manifestations. We report the u...
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Article
A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy
We report a case of mild cavitating leukoencephalopathy associated with a homozygous c.755A > G (p.Asp252Gly) NDUFS1 mutation in a 7-year old boy. Biochemical analysis confirmed an isolated reduction in complex I...
