Mutation of the
            <i>PDGFRB</i>
            gene as a cause of idiopathic basal ganglia calcification

Nicolas, Gaël; Pottier, Cyril; Maltête, David; Coutant, Sophie; Rovelet‐Lecrux, Anne; Legallic, Solenn; Rousseau, Stéphane; Vaschalde, Yvan; Guyant‐Maréchal, Lucie; Augustin, Jérôme; Martinaud, Olivier; Defebvre, Luc; Krystkowiak, Pierre; Pariente, Jérémie; Clanet, M.; Labauge, Pierre; Ayrignac, Xavier; Lefaucheur, Romain; Ber, Isabelle Le; Frébourg, Thierry; Hannequin, Didier; Campion, Dominique

doi:10.1212/wnl.0b013e31827ccf34

Cited by 251 publications

(232 citation statements)

References 34 publications

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“…1 PBC is inherited as an autosomal dominant trait. In this context, causative variants have been identified in 4 genes: SLC20A2 (OMIM 158378), 2 PDGFRB (OMIM 173410), 3 PDGFB (OMIM 190040), 4 and XPR1 (OMIM 605237). 5 Two copy number variants (CNVs) were previously detected as PBC-causing: a partial deletion of PDGFB in one patient 6 and a deletion encompassing SLC20A2 entirely and six other genes in one family.…”

Section: Primary Brain Calcification (Pbc)mentioning

confidence: 99%

“…The deletion of exon 4 causes a frameshift and therefore a probable loss of function. A splice variant at the acceptor site of intron 4 has already SLC20A2 deletions cause brain calcification S David et al been described in a French family 3 and could result in the same consequences as the genomic deletion of exon 4, that is, a total skipping of exon 4 in mRNA. However, RNA was not studied in the family with the splice variant and we cannot exclude that a cryptic acceptor site could be used.…”

Section: Slc20a2 Qmpsf Assaymentioning

confidence: 99%

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Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing

et al. 2016

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Primary brain calcification (PBC) is a dominantly inherited calcifying disorder of the brain. SLC20A2 loss-of-function variants account for the majority of families. Only one genomic deletion encompassing SLC20A2 and six other genes has been reported. We performed whole-exome sequencing (WES) in 24 unrelated French patients with PBC, negatively screened for sequence variant in the known genes SLC20A2, PDGFB, PDGFRB and XPR1. We used the CANOES tool to detect copy number variations (CNVs). We detected two deletions of exon 2 of SLC20A2 in two unrelated patients, which segregated with PBC in one family. We then reanalyzed the same series using a QMPSF assay including one amplicon in each exon of SLC20A2 and detected two supplemental partial deletions in two patients: one deletion of exon 4 and one deletion of exons 4 and 5. These deletions were missed by the first screening step of CANOES but could finally be detected after readjustment of bioinformatic parameters and use of a genotyping step of CANOES. This study reports the first partial deletions of SLC20A2 and strengthens its position as the major PBC-causative gene. It is possible to detect short CNVs from WES data, although the sensitivity of such tools should be evaluated in comparison with other methods.

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Section: Primary Brain Calcification (Pbc)mentioning

confidence: 99%

Section: Slc20a2 Qmpsf Assaymentioning

confidence: 99%

Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing

et al. 2016

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“…Primarna kalcifikacija moždanih struktura obično je autozomno dominantno nasledna (hromozom 14q9) i do sada su otkrivene mutacije na tri gena, SLC2OA2, PDGFB, i PDGFRB. SLC2OA2 je kodiran sa Pit2 fosfatnim transporterom zavisnim od natrijuma, a PDGFB i PDGFRB u vezi su s beta faktorom rasta (27)(28)(29)(30). Skorije studije otkrile su multiple familije sa PFBC mutacijom na XPR1, genom zaduženim za receptor eliminacije fosfora, što utiče na njegovu homeostazu kod PFBC (31).…”

Section: Diskusijaunclassified

Occurrence of Fahr's syndrome in patient suffering from systemic lupus erythematosus: A case report

Knežević¹,

Marinkovic²,

Trikoš³

et al. 2017

Medicinski casopis

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UVOD.Fahrov sindrom je retka neurodegenerativna bolest koju je prvi put 1930. godine klinički opisao naučnik Karl Teodor Fahr (1-3). Nalazi simetričnih kalcifikacija u mozgu datiraju još iz 1855. godine (4,5). Bolest karakteriše kalcifikacija bazalnih ganglija, talamusa, nukleus dentatusa, cerebralnog korteksa, hipokampusa i subkortikalne bele mase (2,3,6,7). Kalcifikacija bazalnih ganglija vidljiva je kod oko 1% slučajeva radioloških pregleda mozga (8-10). Prevalenca bolesti verovatno je niža od 0,5% i kreće se od 0,3% do 1,2% prilikom rutinskih radioloških pretraga u ranijim izveštajima, dok raste do 20,6% u skorijim studijama (11)(12)(13)

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“…SLC20A2 encodes for the sodium-dependent phosphate transporter 2 (PiT2). PDGFB and PDGFRB code for the platelet-derived growth factor beta (PDGFb) and its receptor, and the platelet-derived growth factor receptor beta (PDGFR-b), respectively [28,53,69].…”

Section: Introductionmentioning

confidence: 99%

Fahr’s syndrome and clinical correlation: a case series and literature review

Pistacchi¹,

Gioulis²,

Sanson³

et al. 2016

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Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

Abstract: Mutations of PDGFRB further support the involvement of this biological pathway in IBGC pathophysiology.

Cited by 251 publications

References 34 publications

Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing

Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing

Occurrence of Fahr's syndrome in patient suffering from systemic lupus erythematosus: A case report

Fahr’s syndrome and clinical correlation: a case series and literature review

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