Hypomyelinating leukodystrophy – NKX6–2 gene variant as a cause
نویسندگان
چکیده
منابع مشابه
Defective myelination in mice harboring hypomyelinating leukodystrophy-associated HSPD1 mutation
Hypomyelinating leukodystrophy (HLD) is a genetic demyelinating and dismyelinating disease in the oligodendrocyte, the central nervous system (CNS) myelin-forming glia [1]. Pelizaeus-Merzbacher disease is a prototypic HLD and is now called HLD1. HLD1 is caused by mutations of the gene encoding proteolipid protein 1 (PLP1). HLD4 (OMIM No. 612233) is associated with a missense mutation of mitocho...
متن کاملLarge exonic deletions in POLR3B 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 patients, no mutation in either gene or only one mutation is found. Analysis of the POLR3B cDNA revealed a large deletion of exons 21-22 in one case and of exons 26-27 in another case. These a...
متن کاملPSAP (prosaposin (variant Gaucher disease and variant metachromatic leukodystrophy))
The human PSAP-precursor gene spans approximately 20 kb in length of the long arm of chromosome 10 and consists at least 15 exons. The size of exons range from 57 to 1200 bp and the size of the introns vary from 91 to more than 3800 bp in length. The PSAP gene can be cateogorized as a polycistronic gene. Further analysis of PSAP intronic positions has indicated that it may be evolved from an an...
متن کاملData on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties
Hypomyelinating leukodystrophy (HLD) is genetic demyelinating or dysmyelinating disease and is associated with at least 13 responsible genes. The mutations seem likely cause the functional deficiency of their gene products. HLD4- and HLD5-associated HSPD1 and FAM126A mutations affect biochemical properties of the gene products (Miyamoto et al. (2015,2014) [[1], [2]]). Herein we provide the data...
متن کاملTransgenic replacement of Cx32 in gap junction-deficient oligodendrocytes rescues the phenotype of a hypomyelinating leukodystrophy model.
Oligodendrocytes are coupled by gap junctions (GJs) formed mainly by connexin47 (Cx47) and Cx32. Recessive GJC2/Cx47 mutations cause Pelizaeus-Merzbacher-like disease, a hypomyelinating leukodystrophy, while GJB1/Cx32 mutations cause neuropathy and chronic or acute-transient encephalopathy syndromes. Cx32/Cx47 double knockout (Cx32/Cx47dKO) mice develop severe CNS demyelination beginning at 1 m...
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ژورنال
عنوان ژورنال: Brain Disorders
سال: 2021
ISSN: 2666-4593
DOI: 10.1016/j.dscb.2021.100006