Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

Journal of Medical Genetics

Volumn 49, Issue 6, 2012, Pages 391-399

  Kousi, Maria ^a,b   Anttila, Verneri ^c,d   Schulz, Angela ^e   Calafato, Stella ^c   Jakkula, Eveliina ^d   Riesch, Erik ^f   Myllykangas, Liisa ^a,d   Kalimo, Hannu ^d   Topçu, Meral ^g   Gökben, Sarenur ^h   Alehan, Fusun ⁱ   Lemke, Johannes R ^j   Alber, Michael ^k   Palotie, Aarno ^c,d,l   Kopra, Outi ^a,b   Lehesjoki, Anna Elina ^a,b  

^a FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d UNIVERSITY OF HELSINKI   (Finland)

^e UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^f CEGAT GMBH   (Germany)

^g HACETTEPE UNIVERSITY   (Turkey)

^h EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

ⁱ BASKENT UNIVERSITY   (Turkey)

^j UNIVERSITY OF BERN   (Switzerland)

^k UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^l BROAD INSTITUTE OF MIT AND HARVARD   (United States)

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Author keywords

[No Author keywords available]

Indexed keywords

CLOBAZAM; CLONAZEPAM; DIAZEPAM; ETIRACETAM; LAMOTRIGINE; MESUXIMIDE; PHENOBARBITAL; PREDNISOLONE; PYRIDOXAL 5 PHOSPHATE; RUFINAMIDE; STIRIPENTOL; TOPIRAMATE; VALPROIC ACID;

ADOLESCENT; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; ATAXIA; BRAIN TISSUE; CELL CULTURE; CHILD; CHROMOSOME 7Q; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOSOL; DISEASE COURSE; FEMALE; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; MALE; MENTAL DISEASE; MISSENSE MUTATION; MOUSE; MYOCLONUS; MYOCLONUS EPILEPSY; NONHUMAN; NUCLEOTIDE SEQUENCE; POTASSIUM CHANNEL TETRAMERISATION DOMAIN CONTAINING 7 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALS; BLOTTING, WESTERN; BRAIN CHEMISTRY; CELLS, CULTURED; CHROMOSOME MAPPING; HOMOZYGOTE; HUMANS; INTRACELLULAR SPACE; MICE; MICROSCOPY, FLUORESCENCE; MUTATION; MYOCLONIC EPILEPSIES, PROGRESSIVE; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; POTASSIUM CHANNELS; SEQUENCE ANALYSIS, DNA; TURKEY;

EID: 84864080212     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-100859     Document Type: Article

References (23)

1. Berkovic SF, Andermann F, Carpenter S, Wolfe LS. Progressive myoclonus epilepsies: specific causes and diagnosis. N Engl J Med 1986;315:296-305.
2. Ramachandran N, Girard JM, Turnbull J, Minassian BA. The autosomal recessively inherited progressive myoclonus epilepsies and their genes. Epilepsia 2009;50 (Suppl 5):29-36.
3. Haltia M. The neuronal ceroid-lipofuscinoses. J Neuropathol Exp Neurol 2003;62:1-13.
4. Kousi M, Lehesjoki AE, Mole SE. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat 2011;33:42-63.
5. Noskova L, Stranecky V, Hartmannova H, Pristoupilova A, Baresova V, Ivanek R, Hulkova H, Jahnova H, van der Zee J, Staropoli JF, Sims KB, Tyynelä J, Van Broeckhoven C, Nijssen PC, Mole SE, Elleder M, Kmoch S. Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. Am J Hum Genet 2011;89:241-52.
6. Lander ES, Botstein D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 1987;236:1567-70.
7. Kruglyak L, Daly MJ, Lander ES. Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet 1995;56:519-27.
8. Woods CG, Cox J, Springell K, Hampshire DJ, Mohamed MD, McKibbin M, Stern R, Raymond FL, Sandford R, Malik Sharif S, Karbani G, Ahmed M, Bond J, Clayton D, Inglehearn CF. Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. Am J Hum Genet 2006;78:889-96.
9. Bassuk AG, Wallace RH, Buhr A, Buller AR, Afawi Z, Shimojo M, Miyata S, Chen S, Gonzalez-Alegre P, Griesbach HL, Wu S, Nashelsky M, Vladar EK, Antic D, Ferguson PJ, Cirak S, Voit T, Scott MP, Axelrod JD, Gurnett C, Daoud AS, Kivity S, Neufeld MY, Mazarib A, Straussberg R, Walid S, Korczyn AD, Slusarski DC, Berkovic SF, El-Shanti HI. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet 2008;83:572-81.
10. van Bogaert P, Azizieh R, Desir J, Aeby A, De Meirleir L, Laes JF, Christiaens F, Abramowicz MJ. Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. Ann Neurol 2007;61:579-86.
11. Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am J Hum Genet 2007;81:136-46.
12. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007;81:559-75.
13. Hentze MW, Kulozik AE. A perfect message: RNA surveillance and nonsensemediated decay. Cell 1999;96:307-10.
14. Merla G, Brunetti-Pierri N, Micale L, Fusco C. Copy number variants at Williams-Beuren syndrome 7q11.23 region. Hum Genet 2010;128:3-26.
15. Azizieh R, Orduz D, Van Bogaert P, Bouschet T, Rodriguez W, Schiffmann SN, Pirson I, Abramowicz MJ. Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons. Mol Neurobiol 2011;44:111-21.
16. Baulac S, Baulac M. Advances on the genetics of Mendelian idiopathic epilepsies. Clin Lab Med 2010;30:911-29.
17. Dementieva IS, Tereshko V, McCrossan ZA, Solomaha E, Araki D, Xu C, Grigorieff N, Goldstein SA. Pentameric assembly of potassium channel tetramerization domaincontaining protein 5. J Mol Biol 2009;387:175-91.
18. Schwenk J, Metz M, Zolles G, Turecek R, Fritzius T, Bildl W, Tarusawa E, Kulik A, Unger A, Ivankova K, Seddik R, Tiao JY, Rajalu M, Trojanova J, Rohde V, Gassmann M, Schulte U, Fakler B, Bettler B. Native GABA(B) receptors are heteromultimers with a family of auxiliary subunits. Nature 2010;465:231-5.
19. Bartoi T, Rigbolt KT, Du D, Kohr G, Blagoev B, Kornau HC. GABAB receptor constituents revealed by tandem affinity purification from transgenic mice. J Biol Chem 2010;285:20625-33.
20. Elks CE, Loos RJ, Sharp SJ, Langenberg C, Ring SM, Timpson NJ, Ness AR, Davey Smith G, Dunger DB, Wareham NJ, Ong KK. Genetic markers of adult obesity risk are associated with greater early infancy weight gain and growth. PLoS Med 2010;7: e1000284.
21. Correale S, Pirone L, Di Marcotullio L, De Smaele E, Greco A, Mazza D, Moretti M, Alterio V, Vitagliano L, Di Gaetano S, Gulino A, Pedone EM. Molecular organization of the cullin E3 ligase adaptor KCTD11. Biochimie 2011;93:715-24.
22. Gallo R, Zazzeroni F, Alesse E, Mincione C, Borello U, Buanne P, D'Eugenio R, Mackay AR, Argenti B, Gradini R, Russo MA, Maroder M, Cossu G, Frati L, Screpanti I, Gulino A. REN: a novel, developmentally regulated gene that promotes neural cell differentiation. J Cell Biol 2002;158:731-40.
23. Argenti B, Gallo R, Di Marcotullio L, Ferretti E, Napolitano M, Canterini S, De Smaele E, Greco A, Fiorenza MT, Maroder M, Screpanti I, Alesse E, Gulino A. Hedgehog antagonist REN(KCTD11) regulates proliferation and apoptosis of developing granule cell progenitors. J Neurosci 2005;25:8338-46.