A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia

European Journal of Human Genetics

Volumn 22, Issue 10, 2014, Pages 1236-1238

  Nicolas, Gaël ^a,b,c   Jacquin, Agnès ^d   Thauvin Robinet, Christel ^d   Rovelet Lecrux, Anne ^a,b,c   Rouaud, Olivier ^d   Pottier, Cyril ^a,b,c   Aubriot Lorton, Marie Hélène ^d   Rousseau, Stéphane ^a,b,c   Wallon, David ^a,b,c   Duvillard, Christian ^d   Béjot, Yannick ^d   Frébourg, Thierry ^a,b   Giroud, Maurice ^d   Campion, Dominique ^a,b,c,e   Hannequin, Didier ^a,b,c  

^a ROUEN UNIVERSITY HOSPITAL   (France)

^b UNIVERSITY OF ROUEN   (France)

^c Rouen University Hospitals   (France)

^d DIJON UNIVERSITY HOSPITAL   (France)

^e Rouvray Psychiatric Hospital   (France)

Author keywords

de novo; dementia; Fahr's disease; IBGC; PDGFB; PDGFRB

Indexed keywords

PLATELET DERIVED GROWTH FACTOR B; DNA TOPOISOMERASE; SF3A1 PROTEIN, HUMAN; SMALL NUCLEAR RIBONUCLEOPROTEIN; STOP CODON; TOP1 PROTEIN, HUMAN;

ADULT; ARTICLE; BLOOD BRAIN BARRIER; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; ELECTROMYOGRAPHY; EXON; FAHR DISEASE; FEMALE; HUMAN; HUMAN TISSUE; IDIOPATHIC BASAL GANGLIA CALCIFICATION; MULTIPLEX POLYMERASE CHAIN REACTION; MUSCLE BIOPSY; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPASMODIC DYSPHONIA; STOP CODON; WHITE MATTER; YOUNG ADULT; BASAL GANGLION; BRAIN; BRAIN DISEASE; DYSTONIA; EXTRAPYRAMIDAL SYNDROME; GENETICS; LARYNX DISORDER; METABOLISM; PATHOLOGY; PEDIGREE; RADIOGRAPHY; SINGLE NUCLEOTIDE POLYMORPHISM;

MUS;

BASAL GANGLIA; BASAL GANGLIA DISEASES; BRAIN; BRAIN DISEASES; CODON, NONSENSE; DNA TOPOISOMERASES, TYPE I; DYSTONIA; EXONS; FEMALE; HUMANS; LARYNGEAL DISEASES; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS C-SIS; RIBONUCLEOPROTEIN, U2 SMALL NUCLEAR; TOMOGRAPHY, X-RAY COMPUTED; YOUNG ADULT;

EID: 84927002788     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.9     Document Type: Article

References (12)

1. Nicolas G, Pottier C, Charbonnier C et al: Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. Brain 2013; 136: 3395-3407.
2. Wang C, Li Y, Shi L et al: Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet 2012; 44: 254-256.
3. Hsu SC, Sears RL, Lemos RR et al: Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics 2013; 14: 11-22.
4. Nicolas G, Pottier C, Maltete D et al: Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology 2013; 80: 181-187.
5. Keller A, Westenberger A, Sobrido MJ et al: Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet 2013; 45: 1077-1082.
6. de Oliveira MF, Steinberg SS, de Oliveira JR: The challenging interpretation of genetic and neuroimaging features in basal ganglia calcification. Gen Hosp Psychiatry 2013; 35: 210-211.
7. Smits MG, Gabreels FJ, Froeling PG, de Abreu RA, Thijssen HO, Renier WO: Calcium-phosphate metabolism in autosomal recessive idiopathic strio-pallido-dentate calcinosis and Cockayne's syndrome. Clin Neurol Neurosurg 1983; 85: 145-153.
8. Colosimo C, Suppa A, Fabbrini G, Bologna M, Berardelli A: Craniocervical dystonia: clinical and pathophysiological features. Eur J Neurol 2010; 17(Suppl 1): 15-21.
9. Wszolek ZK, Baba Y, Mackenzie IR et al: Autosomal dominant dystonia-plus with cerebral calcifications. Neurology 2006; 67: 620-625.
10. Michaelson JJ, Shi Y, Gujral M et al: Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell 2012; 151: 1431-1442.
11. Schweingruber C, Rufener SC, Zund D, Yamashita A, Muhlemann O: Nonsensemediated mRNA decay-mechanisms of substrate mRNA recognition and degradation in mammalian cells. Biochim Biophys Acta 2013; 1829: 612-623.
12. Shim AH, Liu H, Focia PJ, Chen X, Lin PC, He X: Structures of a platelet-derived growth factor/propeptide complex and a platelet-derived growth factor/receptor complex. Proc Natl Acad Sci USA 2010; 107: 11307-11312.