Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification.

Familial idiopathic basal ganglia calcification (FIBGC) is a rare, autosomal dominant disorder involving bilateral calcification of the basal ganglia. To identify gene mutations related to a Chinese FIBGC lineage, we evaluated available individuals in the family using CT scans. DNA was extracted fro...

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Autores principales:	Yang Zhang, Xianan Guo, Anhua Wu
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2013
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/494813e2b3f343a595a5560fbe6bd6ff
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spelling	oai:doaj.org-article:494813e2b3f343a595a5560fbe6bd6ff2021-11-18T07:56:43ZAssociation between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification.1932-620310.1371/journal.pone.0057060https://doaj.org/article/494813e2b3f343a595a5560fbe6bd6ff2013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23437308/?tool=EBIhttps://doaj.org/toc/1932-6203Familial idiopathic basal ganglia calcification (FIBGC) is a rare, autosomal dominant disorder involving bilateral calcification of the basal ganglia. To identify gene mutations related to a Chinese FIBGC lineage, we evaluated available individuals in the family using CT scans. DNA was extracted from the peripheral blood of available family members, and both exonic and flanking intronic sequences of the SLC20A2 gene were amplified by PCR and then sequenced. Non-denaturing polyacrylamide gel electrophoresis (PAGE) was used to confirm the presence of mutations. Allele imbalances of the SLC20A2 gene or relative quantity of SLC20A2 transcripts were evaluated using qRT-PCR. A novel heterozygous single base-pair deletion (c.510delA) within the SLC20A2 gene was identified. This deletion mutation was found to co-segregate with basal ganglia calcification in all of the affected family members but was not detected in unaffected individuals or in 167 unrelated Han Chinese controls. The mutation will cause a frameshift, producing a truncated SLC20A2 protein with a premature termination codon, most likely leading to the complete loss of function of the SLC20A2 protein. This mutation may also lead to a reduction in SLC20A2 mRNA expression by approximately 30% in cells from affected individuals. In conclusion, we identified a novel mutation in SLC20A2 that is linked to FIBGC. In addition to the loss of function at the protein level, decreasing the expression of SLC20A2 mRNA may be another mechanism that can regulate SLC20A2 function in IBGC individuals. We propose that the regional expression pattern of SLC20A1 and SLC20A2 might explain the unique calcification pattern observed in FIBGC patients.Yang ZhangXianan GuoAnhua WuPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 2, p e57060 (2013)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Yang Zhang Xianan Guo Anhua Wu Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification.
description	Familial idiopathic basal ganglia calcification (FIBGC) is a rare, autosomal dominant disorder involving bilateral calcification of the basal ganglia. To identify gene mutations related to a Chinese FIBGC lineage, we evaluated available individuals in the family using CT scans. DNA was extracted from the peripheral blood of available family members, and both exonic and flanking intronic sequences of the SLC20A2 gene were amplified by PCR and then sequenced. Non-denaturing polyacrylamide gel electrophoresis (PAGE) was used to confirm the presence of mutations. Allele imbalances of the SLC20A2 gene or relative quantity of SLC20A2 transcripts were evaluated using qRT-PCR. A novel heterozygous single base-pair deletion (c.510delA) within the SLC20A2 gene was identified. This deletion mutation was found to co-segregate with basal ganglia calcification in all of the affected family members but was not detected in unaffected individuals or in 167 unrelated Han Chinese controls. The mutation will cause a frameshift, producing a truncated SLC20A2 protein with a premature termination codon, most likely leading to the complete loss of function of the SLC20A2 protein. This mutation may also lead to a reduction in SLC20A2 mRNA expression by approximately 30% in cells from affected individuals. In conclusion, we identified a novel mutation in SLC20A2 that is linked to FIBGC. In addition to the loss of function at the protein level, decreasing the expression of SLC20A2 mRNA may be another mechanism that can regulate SLC20A2 function in IBGC individuals. We propose that the regional expression pattern of SLC20A1 and SLC20A2 might explain the unique calcification pattern observed in FIBGC patients.
format	article
author	Yang Zhang Xianan Guo Anhua Wu
author_facet	Yang Zhang Xianan Guo Anhua Wu
author_sort	Yang Zhang
title	Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification.
title_short	Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification.
title_full	Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification.
title_fullStr	Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification.
title_full_unstemmed	Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification.
title_sort	association between a novel mutation in slc20a2 and familial idiopathic basal ganglia calcification.
publisher	Public Library of Science (PLoS)
publishDate	2013
url	https://doaj.org/article/494813e2b3f343a595a5560fbe6bd6ff
work_keys_str_mv	AT yangzhang associationbetweenanovelmutationinslc20a2andfamilialidiopathicbasalgangliacalcification AT xiananguo associationbetweenanovelmutationinslc20a2andfamilialidiopathicbasalgangliacalcification AT anhuawu associationbetweenanovelmutationinslc20a2andfamilialidiopathicbasalgangliacalcification
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Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification.

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