Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism

Journal of Medical Genetics

Volumn 50, Issue 8, 2013, Pages 515-520

  Köroǧlu, Çiǧdem ^a   Seven, Mehmet ^b   Tolun, Aslihan ^a  

^a BOGAZICI UNIVERSITY   (Turkey)

^b ISTANBUL UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ION CHANNEL; NALCN PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BIOINFORMATICS; CASE REPORT; CEREBELLUM ATROPHY; EXOME; FACE DYSMORPHIA; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; GROWTH RETARDATION; HUMAN; NERVE DEGENERATION; NEUROAXONAL DYSTROPHY; PHENOTYPE; PIGEON THORAX; PRIORITY JOURNAL; SCOLIOSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84883158819     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101634     Document Type: Article

References (34)

1. Gregory A, Kurian MA, Maher ER, Hogarth P, Hayflick SJ. PLA2G6-associated neurodegeneration. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, eds. Gene Reviews. Seattle, WA: University of Washington, 1993.
2. Cowen D, Olmstead EV. Infantile neuroaxonal dystrophy. J Neuropathol Exp Neurol 1963;22:175-236.
3. 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. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet 2006;38:752-4.
4. Khateeb S, Flusser H, Ofir R, Shelef I, Narkis G, Vardi G, Shorer Z, Levy R, Galil A, Elbedour K, Birk OS. PLA2G6 mutation underlies infantile neuroaxonal dystrophy. Am J Hum Genet 2006;79:942-8.
5. 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. Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). Neurology 2008;70:1623-9.
6. Tonelli A, Romaniello R, Grasso R, Cavallini A, Righini A, Bresolin N, Borgatti R, Bassi MT. Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy. Clin Genet 2010;78:432-40.
7. Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW, Hardy J, Houlden H, Singleton A, Schneider SA. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol 2009;65:19-23.
8. Shi CH, Tang BS, Wang L, Lv ZY, Wang J, Luo LZ, Shen L, Jiang H, Yan XX, Pan Q, Xia K, Guo JF. PLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohort. Neurology 2011;77:75-81.
9. Yoshino H, Tomiyama H, Tachibana N, Ogaki K, Li Y, Funayama M, Hashimoto T, Takashima S, Hattori N. Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism. Neurology 2010;75:1356-61.
10. Seven M, Ozkilic A, Yuksel A. Dysmorphic face in two siblings with infantile neuroaxonal dystrophy. Genet Couns 2002;13:465-73.
11. Lohmann E, Koroglu C, Hanagasi HA, Dursun B, Tasan E, Tolun A. A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood. Parkinsonism Relat Disord 2012;18:191-3.
12. Radonic A, Thulke S, Mackay IM, Landt O, Siegert W, Nitsche A. Guideline to reference gene selection for quantitative real-time PCR. Biochem Biophys Res Commun 2004;313:856-62.
13. Hunter AG, Jimenez CL, Carpenter BF, MacDonald I. Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene, and a rapidly lethal course. Am J Med Genet 1987;28:171-80.
14. Nagy E, Maquat LE. A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem Sci 1998;23:198-9.
15. Collins JS, Schwartz CE. Detecting polymorphisms and mutations in candidate genes. Am J Hum Genet 2002;71:1251-2.
16. Lu B, Su Y, Das S, Liu J, Xia J, Ren D. The neuronal channel NALCN contributes resting sodium permeability and is required for normal respiratory rhythm. Cell 2007;129:371-83.
17. Lee JH, Cribbs LL, Perez-Reyes E. Cloning of a novel four repeat protein related to voltage-gated sodium and calcium channels. FEBS Lett 1999;445:231-6.
18. Enyedi P, Czirjak G. Molecular Background of leak K+ currents: two pore domain potassium channels. Physiol Rev 2010;90:559-605.
19. Swayne LA, Mezghrani A, Varrault A, Chemin J, Bertrand G, Dalle S, Bourinet E, Lory P, Miller RJ, Nargeot J, Monteil A. The NALCN ion channel is activated by M3 muscarinic receptors in a pancreatic beta-cell line. EMBO Rep 2009;10:873-80.
20. Lu B, Su Y, Das S, Wang H, Wang Y, Liu J, Ren D. Peptide neurotransmitters activate a cation channel complex of NALCN and UNC-80. Nature 2009;457:741-4.
21. Sinke AP, Caputo C, Tsaih SW, Yuan R, Ren D, Deen PM, Korstanje R. Genetic analysis of mouse strains with variable serum sodium concentrations identifies the Nalcn sodium channel as a novel player in osmoregulation. Physiol Genomics 2011;43:265-70.
22. Nash HA, Scott RL, Lear BC, Allada R. An unusual cation channel mediates photic control of locomotion in Drosophila. Curr Biol 2002;12:2152-8.
23. Pierce-Shimomura JT, Chen BL, Mun JJ, Ho R, Sarkis R, McIntire SL. Genetic analysis of crawling and swimming locomotory patterns in C. elegans. Proc Natl Acad Sci USA 2008;105:20982-7.
24. Yeh E, Ng S, Zhang M, Bouhours M, Wang Y, Wang M, Hung W, Aoyagi K, Melnik-Martinez K, Li M, Liu F, Schafer WR, Zhen M. A putative cation channel, NCA-1, and a novel protein, UNC-80, transmit neuronal activity in C. elegans. PLoS Biol 2008;6:e55.
25. Lu TZ, Feng ZP. A sodium leak current regulates pacemaker activity of adult central pattern generator neurons in Lymnaea stagnalis. PloS One 2011;6:e18745.
26. Lu TZ, Feng ZP. NALCN: a regulator of pacemaker activity. Mol Neurobiol 2012;45:415-23.
27. Kong KC, Tobin AB. The role of M(3)-muscarinic receptor signaling in insulin secretion. Commun Integr Biol 2011;4:489-91.
28. Turk J, Ramanadham S. The expression and function of a group VIA calcium-independent phospholipase A2 (iPLA2beta) in beta-cells. Can J Physiol Pharmacol 2004;82:824-32.
29. Ramanadham S, Hsu FF, Zhang S, Jin C, Bohrer A, Song H, Bao S, Ma Z, Turk J. Apoptosis of insulin-secreting cells induced by endoplasmic reticulum stress is amplified by overexpression of group VIA calcium-independent phospholipase A2 (iPLA2 beta) and suppressed by inhibition of iPLA2 beta. Biochemistry 2004;43:918-30.
30. Biankin AV, Waddell N, Kassahn KS, Gingras MC, Muthuswamy LB, Johns L, Miller DK, Wilson PJ, Patch AM, Wu J, Chang DK, Cowley MJ, Gardiner BB, Song S, Harliwong I, Idrisoglu S, Nourse C, Nourbakhsh E, Manning S, Wani S, Gongora M, Pajic M, Scarlett CJ, Gill AJ, Pinho AV, Rooman I, Anderson M, Holmes O, Leonard C, Taylor D, Wood S, Xu Q, Nones K, Fink JL, Christ A, Bruxner T, Cloonan N, Kolle G, Newell F, Pinese M, Mead RS, Humphris JL, Kaplan W, Jones MD, Colvin EK, Nagrial AM, Humphrey ES, Chou A, Chin VT, Chantrill LA, Mawson A, Samra JS, Kench JG, Lovell JA, Daly RJ, Merrett ND, Toon C, Epari K, Nguyen NQ, Barbour A, Zeps N, Australian Pancreatic Cancer Genome Initiative, Kakkar N, Zhao F, Wu YQ, Wang M, Muzny DM, Fisher WE, Brunicardi FC, Hodges SE, Reid JG, Drummond J, Chang K, Han Y, Lewis LR, Dinh H, Buhay CJ, Beck T, Timms L, Sam M, Begley K, Brown A, Pai D, Panchal A, Buchner N, De Borja R, Denroche RE, Yung CK, Serra S, Onetto N, Mukhopadhyay D, Tsao MS, Shaw PA, Petersen GM, Gallinger S, Hruban RH, Maitra A, Iacobuzio-Donahue CA, Schulick RD, Wolfgang CL, Morgan RA, Lawlor RT, Capelli P, Corbo V, Scardoni M, Tortora G, Tempero MA, Mann KM, Jenkins NA, Perez-Mancera PA, Adams DJ, Largaespada DA, Wessels LF, Rust AG, Stein LD, Tuveson DA, Copeland NG, Musgrove EA, Scarpa A, Eshleman JR, Hudson TJ, Sutherland RL, Wheeler DA, Pearson JV, McPherson JD, Gibbs RA, Grimmond SM. Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature 2012;491:399-405.
31. Lee Y, Yoon KA, Joo J, Lee D, Bae K, Han JY, Lee JS. Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study. Carcinogenesis 2013;34:307-13.
32. 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. Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology 2008;71:1402-9.
33. Matsushima Y, Kikuchi T, Kikuchi H, Ichihara N, Ishikawa A, Ishijima Y, Tachibana M. A new mouse model for infantile neuroaxonal dystrophy, inad mouse, maps to mouse chromosome 1. Mamm Genome 2005;16:73-8.
34. Fyfe JC, Al-Tamimi RA, Liu J, Schaffer AA, Agarwala R, Henthorn PS. A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy. Neurogenetics 2011;12:223-32.