Novel C19orf12 loss-of-function variant leading to neurodegeneration with brain iron accumulation

Autor:	Antonia, Lefter, Iulia, Mitrea, Dan, Mitrea, Vasilica, Plaiasu, Aida, Bertoli-Avella, Christian, Beetz, Liviu, Cozma, Delia, Tulbă, Cristina Elena, Mitu, Bogdan Ovidiu, Popescu
Rok vydání:	2021
Předmět:	Male Mitochondrial Proteins Arts and Humanities (miscellaneous) Romania Mutation Brain Humans Neurology (clinical) Pantothenate Kinase-Associated Neurodegeneration
Zdroj:	Neurocase. 27:481-483
ISSN:	1465-3656 1355-4794
DOI:	10.1080/13554794.2021.2022703
Popis:	Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited disorders characterised by cerebral iron overload mainly in the basal ganglia. Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a form of NBIA caused by pathogenic C19orf12 gene variants. We report on a Romanian patient with MPAN confirmed through exome sequencing, revealing a homozygous nonsense variant in the C19orf12 gene, NM_001031726.3: c.215TG (p.Leu72*), that co-segregates with disease in tested relatives: the patient`s parents, younger brother and paternal uncle are heterozygous carriers. This is a novel disease-causing variant in the C19orf12 gene and the first reported MPAN case in a Romanian patient.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99b683300b9bd6b9398feba434648d0c https://doi.org/10.1080/13554794.2021.2022703 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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