Academic Journal
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy
| العنوان: | Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy |
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| المؤلفون: | Musumeci A, Calì F, Scuderi C, Vinci M, Vitello GA, Musumeci SA, Chiavetta V, Federico C, Amore G, Saccone S, Di Rosa G, Nicotera AG. |
| المساهمون: | Musumeci, A, Calì, F, Scuderi, C, Vinci, M, Vitello, Ga, Musumeci, Sa, Chiavetta, V, Federico, C, Amore, G, Saccone, S, Di Rosa, G, Nicotera, Ag. |
| بيانات النشر: | MDPI |
| سنة النشر: | 2022 |
| المجموعة: | Università degli Studi di Messina: IRIS |
| مصطلحات موضوعية: | POLR3A, hypomyelination, leukodystrophy, missense mutation, neurodegenerative disorder |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | ELETTRONICO |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/36140376; info:eu-repo/semantics/altIdentifier/wos/WOS:000857599500001; volume:10; issue:9; firstpage:1; lastpage:9; numberofpages:9; journal:BIOMEDICINES; http://hdl.handle.net/11570/3240390 |
| DOI: | 10.3390/biomedicines10092276 |
| الاتاحة: | http://hdl.handle.net/11570/3240390 https://doi.org/10.3390/biomedicines10092276 |
| رقم الانضمام: | edsbas.F6543640 |
| قاعدة البيانات: | BASE |
| DOI: | 10.3390/biomedicines10092276 |
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