Journal
BIOMEDICINES
Volume 10, Issue 9, Pages -Publisher
MDPI
DOI: 10.3390/biomedicines10092276
Keywords
hypomyelination; leukodystrophy; missense mutation; neurodegenerative disorder; POLR3A
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Funding
- Italian Ministry of Health
- Dept. B.G.E.S., University of Catania
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Recessive mutations in the POLR3A gene are associated with POLR3-HLD and deficient cerebral myelin formation. In a cohort of five families from Sicily, Italy, two cases of POLR3-related leukodystrophy were detected, with one caused by a compound heterozygous mutation in the POLR3A gene.
Recessive mutations in the POLR3A gene cause POLR3-HLD (the second-most-common form of childhood-onset hypomyelinating leukodystrophy), a neurodegenerative disorder featuring deficient cerebral myelin formation. To date, more than 140 POLR3A (NM_007055.3) missense mutations are related to the pathogenesis of POLR3-related leukodystrophy and spastic ataxia. Herein, in a cohort of five families from Sicily (Italy), we detected two cases of patients affected by POLR3-related leukodystrophy, one due to a compound heterozygous mutation in the POLR3A gene, including a previously undescribed missense mutation (c.328A > G (p.Lys110Glu)). Our study used an in-house NGS gene panel comprising 41 known leukodystrophy genes. Successively, we used a predictive test supporting the missense mutation as causative of disease, thus this mutation can be considered Likely Pathogenic and could be as a new pathogenetic mutation of the POLR3A gene causing a severe form of POLR3-HLD.
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