PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 159 B, Issue 2, 2012, Pages 183-191

  Lu, Chin Song ^a   Lai, Szu Chia ^a   Wu, Ruey Meei ^b   Weng, Yi Hsin ^a   Huang, Chia Ling ^c   Chen, Rou Shayn ^a   Chang, Hsiu Chen ^a   Wu Chou, Yah Huei ^a,d   Yeh, Tu Hsueh ^a  

^a CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^b NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^c SAINT PAUL S HOSPITAL   (Taiwan)

^d CHANG GUNG UNIVERSITY   (Taiwan)

Author keywords

Multiple ligation probe amplification (MLPA); PARK14; Parkinson's disease; PLA2G6; Splice site

Indexed keywords

PEPTIDES AND PROTEINS; PROTEIN PLA2G6; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BRAIN CORTEX ATROPHY; CEREBELLUM ATROPHY; CHILD; CONTROLLED STUDY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DOSAGE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PARKINSON DISEASE; PARKINSONISM; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; AGE OF ONSET; CASE-CONTROL STUDIES; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GROUP VI PHOSPHOLIPASES A2; HUMANS; MALE; MUTATION; PARKINSONIAN DISORDERS; PHENOTYPE; POLYMERASE CHAIN REACTION; UBIQUITIN-PROTEIN LIGASES; YOUNG ADULT;

EID: 84862959258     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.32012     Document Type: Article

References (30)

1. Alcalay RN, Caccappolo E, Mejia-Santana H, Tang MX, Rosado L, Ross BM, Verbitsky M, Kisselev S, Louis ED, Comella C, Colcher A, Jennings D, Nance MA, Bressman SB, Scott WK, Tanner C, Mickel S, Andrews H, Waters C, Fahn S, Cote L, Frucht S, Ford B, Rezak M, Novak K, Friedman JH, Pfeiffer R, Marsh L, Hiner B, Siderowf A, Ottman R, Marder K, Clark LN. 2010. Frequency of known mutations in early-onset Parkinson disease: Implication for genetic counseling: the consortium on risk for early onset Parkinson disease study. Arch Neurol 67: 1116-1122.
2. Bower MA, Bushara K, Dempsey MA, Das S, Tuite PJ. 2011. Novel mutations in siblings with later-onset PLA2G6-associated neurodegeneration (PLAN). Mov Disord 26: 1768-1769.
3. Brunak S, Engelbrecht J, Knudsen S. 1991. Prediction of human mRNA donor and acceptor sites from the DNA sequence. J Mol Biol 220: 49-65.
4. Chen W, Kubota S, Seyama Y. 1998. Alternative pre-mRNA splicing of the sterol 27-hydroxylase gene (CYP 27) caused by a G to A mutation at the last nucleotide of exon 6 in a patient with cerebrotendinous xanthomatosis (CTX). J Lipid Res 39: 509-517.
5. Crompton D, Rehal PK, MacPherson L, Foster K, Lunt P, Hughes I, Brady AF, Pike MG, De Gressi S, Morgan NV, Hardy C, Smith M, MacDonald F, Maher ER, Kurian MA. 2010. Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis. Mol Genet Metab 100: 207-212.
6. Engel LA, Jing Z, O'Brien DE, Sun M, Kotzbauer PT. 2010. Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. PLoS One 5: e12897.
7. Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. 2003. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423: 293-298.
8. Gasser T. 2010. Identifying PD-causing genes and genetic susceptibility factors: Current approaches and future prospects. Prog Brain Res 183: 3-20.
9. Gregory A, Westaway SK, Holm IE, Kotzbauer PT, Hogarth P, Sonek S, Coryell JC, Nguyen TM, Nardocci N, Zorzi G, Rodriguez D, Desguerre I, Bertini E, Simonati A, Levinson B, Dias C, Barbot C, Carrilho I, Santos M, Malik I, Gitschier J, Hayflick SJ. 2008. Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology 71: 1402-1409.
10. Hartig MB, Hortnagel K, Garavaglia B, Zorzi G, Kmiec T, Klopstock T, Rostasy K, Svetel M, Kostic VS, Schuelke M, Botz E, Weindl A, Novakovic I, Nardocci N, Prokisch H, Meitinger T. 2006. Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann Neurol 59: 248-256.
11. Hughes AJ, Daniel SE, Kilford L, Lees AJ. 1992. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: A clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 55: 181-184.
12. Kurian MA, Morgan NV, MacPherson L, Foster K, Peake D, Gupta R, Philip SG, Hendriksz C, Morton JE, Kingston HM, Rosser EM, Wassmer E, Gissen P, Maher ER. 2008. Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). Neurology 70: 1623-1629.
13. Lu CS, Chang HC, Kuo PC, Liu YL, Wu WS, Weng YH, Yen TC, Chou YH. 2004a. The parkinsonian phenotype of spinocerebellar ataxia type 3 in a Taiwanese family. Parkinsonism Relat Disord 10: 369-373.
14. Lu CS, Chou YH, Weng YH, Chen RS. 2006. Genetic and DAT imaging studies of familial parkinsonism in a Taiwanese cohort. J Neural Transm 70 (Suppl): 235-240.
15. Lu CS, Wu Chou YH, Kuo PC, Chang HC, Weng YH. 2004b. The parkinsonian phenotype of spinocerebellar ataxia type 2. Arch Neurol 61: 35-38.
16. Marder KS, Tang MX, Mejia-Santana H, Rosado L, Louis ED, Comella CL, Colcher A, Siderowf AD, Jennings D, Nance MA, Bressman S, Scott WK, Tanner CM, Mickel SF, Andrews HF, Waters C, Fahn S, Ross BM, Cote LJ, Frucht S, Ford B, Alcalay RN, Rezak M, Novak K, Friedman JH, Pfeiffer RF, Marsh L, Hiner B, Neils GD, Verbitsky M, Kisselev S, Caccappolo E, Ottman R, Clark LN. 2010. Predictors of parkin mutations in early-onset Parkinson disease: The consortium on risk for early-onset Parkinson disease study. Arch Neurol 67: 731-738.
17. Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath RC, Simonati A, Schanen C, Johnson CA, Levinson B, Woods CG, Wilmot B, Kramer P, Gitschier J, Maher ER, Hayflick SJ. 2006. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet 38: 752-754.
18. Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW, Hardy J, Houlden H, Singleton A, Schneider SA. 2009. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol 65: 19-23.
19. Paisan-Ruiz C, Guevara R, Federoff M, Hanagasi H, Sina F, Elahi E, Schneider SA, Schwingenschuh P, Bajaj N, Emre M, Singleton AB, Hardy J, Bhatia KP, Brandner S, Lees AJ, Houlden H. 2010a. Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Mov Disord 25: 1791-1800.
20. Paisan-Ruiz C, Li A, Schneider SA, Holton JL, Johnson R, Kidd D, Chataway J, Bhatia KP, Lees AJ, Hardy J, Revesz T, Houlden H. 2010b. Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. Neurobiol Aging in press. DOI: 10.1016/j.neurobiolaging.2010.05.009
21. Pankratz N, Kissell DK, Pauciulo MW, Halter CA, Rudolph A, Pfeiffer RF, Marder KS, Foroud T, Nichols WC. 2009. Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations. Neurology 73: 279-286.
22. Shapiro MB, Senapathy P. 1987. RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression. Nucleic Acids Res 15: 7155-7174.
23. Shi CH, Tang BS, Wang L, Lv ZY, Wang J, Luo LZ, Shen L, Jiang H, Yan XX, Pan Q, Xia K, Guo JF. 2011. PLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohort. Neurology 77(1): 75-81.
24. Sina F, Shojaee S, Elahi E, Paisan-Ruiz C. 2009. R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family. Eur J Neurol 16: 101-104.
25. Tan EK, Ho P, Tan L, Prakash KM, Zhao Y. 2010. PLA2G6 mutations and Parkinson's disease. Ann Neurol 67: 148.
26. Tomiyama H, Yoshino H, Ogaki K, Li L, Yamashita C, Li Y, Funayama M, Sasaki R, Kokubo Y, Kuzuhara S, Hattori N. 2011. PLA2G6 variant in Parkinson's disease. J Hum Genet 56: 401-403.
27. Weng YH, Chou YH, Wu WS, Lin KJ, Chang HC, Yen TC, Chen RS, Wey SP, Lu CS. 2007. PINK1 mutation in Taiwanese early-onset parkinsonism: Clinical, genetic, and dopamine transporter studies. J Neurol 254: 1347-1355.
28. Wu-Chou YH, Yeh TH, Wang CY, Lin JJ, Huang CC, Chang HC, Lai SC, Chen RS, Weng YH, Huang CL, Lu CS. 2010. High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia. Am J Med Genet B Neuropsychiatr Genet 153B: 903-908.
29. Yoshino H, Tomiyama H, Tachibana N, Ogaki K, Li Y, Funayama M, Hashimoto T, Takashima S, Hattori N. 2010. Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism. Neurology 75: 1356-1361.
30. Zhang MQ. 1998. Statistical features of human exons and their flanking regions. Hum Mol Genet 7: 919-932.