A new missense mutation found in the FLNA gene in a family with bilateral periventricular nodular heterotopia (BPNH) alters the splicing process

Journal of Molecular Neuroscience

Volumn 35, Issue 2, 2008, Pages 195-200

  Tsuneda, Simone S ^a   Torres, Fabio R ^a   Montenegro, Maria A ^a   Guerreiro, Marilisa M ^a   Cendes, Fernando ^a   Lopes Cendes, Iscia ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

Bilateral periventricular nodular heterotopia; Epilepsy; FLNA gene; Neurogenetics

Indexed keywords

CARBAMAZEPINE; CLOBAZAM; COMPLEMENTARY DNA; FILAMIN A; LAMOTRIGINE; OXCARBAZEPINE; PHENOBARBITAL; PHENYTOIN; VALPROIC ACID; ACTIN BINDING PROTEIN; CONTRACTILE PROTEIN; FILAMINS;

ADULT; ARTICLE; BILATERAL PERIVENTRICULAR NODULAR HETEROTOPIA; CASE REPORT; CLINICAL FEATURE; DNA SEQUENCE; DNA SPLICING; FEMALE; FLNA GENE; GENE; GENE EXPRESSION; HETEROTOPIA; HUMAN; MENTAL DEFICIENCY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROIMAGING; PHENOTYPE; SEIZURE; X CHROMOSOME; AMINO ACID SEQUENCE; EPILEPSY; EXON; FAMILY HEALTH; GENETICS; INTRON; MOLECULAR GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY; PERIVENTRICULAR NODULAR HETEROTOPIA; RNA SPLICING; STOP CODON; X CHROMOSOME INACTIVATION;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CODON, NONSENSE; CONTRACTILE PROTEINS; EPILEPSY; EXONS; FAMILY HEALTH; FEMALE; HUMANS; INTRONS; MAGNETIC RESONANCE IMAGING; MICROFILAMENT PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PERIVENTRICULAR NODULAR HETEROTOPIA; PHENOTYPE; RNA SPLICING; X CHROMOSOME INACTIVATION;

EID: 49849104717     PISSN: 08958696     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12031-008-9050-1     Document Type: Article

References (22)

1. R. C. Allen H. Y. Zoghbi A. B. Moseley 1992 Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation American Journal of Human Genetics 51 6 1229 1239
2. I. Carmel S. Tal I. Vig G. Ast 2004 Comparative analysis detects dependencies among the 5′ splice-site positions RNA 10 5 828 840
3. F. Corpet 1988 Multiple sequence alignment with hierarchical clustering Nucleic Acids Research 16 22 10881 10890
4. C. Cunningham J. Gorlin D. Kwiatkwoski 1992 Actin-binding protein requirement for cortical stability and efficient locomotion Science 255 325 327
5. Y. Z. Eksioglu I. E. Scheffer P. Cardenas 1996 Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development Neuron 16 1 77 87
6. J. Fox E. Lamperti Y. Eksioglu 1998 Mutations in filamin 1 arrest migration of cerebral cortical neurons in human periventricular heterotopia Neuron 21 1315 1325
7. E. Gasteiger A. Gattiker C. Hoogland I. Ivanyi R. D. Appel A. Bairoch 2003 ExPASy: the proteomics server for in-depth protein knowledge and analysis Nucleic Acids Research 31 3784 3788
8. M. Glogauer P. Arora D. Chou 1998 The role of actin-binding protein 280 in integrin-dependent mechanoprotection Journal of Biological Chemistry 275 1689 1698
9. R. Guerrini D. Mei S. Sisodiya 2004 Germline and mosaic mutations of FLN1 in men with periventricular heterotopia Neurology 63 1 51 56
10. M. A. Montenegro M. M. Guerreiro I. Lopes-Cendes 2002 Interrelationship of Genetics and Prenatal Injury in the Genesis of Malformations of Cortical Development Archives of Neurology 59 1147 1153
11. F. Moro R. Carrozo P. Veggiotti 2002 Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene Neurology 58 916 921
12. A. J. Newman 1997 The role of U5 snRNP in pre-mRNA splicing The EMBO Journal 16 19 5797 5800
13. I. Ott E. Fischer Y. Miyagi 1998 A role for tissue factor in cell adhesion and migration mediated by interaction with actin-binding protein 280 Journal of Cell Biology 140 1241 1253
14. E. Parrini D. Mei M. Wright 2004 Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia Neurogenetics 5 3 191 196
15. E. Parrini A. Ramazzotti W. B. Dobyns 2006 Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations Brain 129 Pt 7 1892 1906
16. S. P. Robertson 2005 Filamin A: phenotypic diversity Current Opinion in Genetics & Development 15 3 301 307
17. S. P. Robertson S. R. F. Twigg A. J. Sutherland-Smith 2003 Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans Nature Genetics 33 487 491
18. V. L. Sheen P. H. Dixon J. W. Fox 2001 Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females Human Molecular Genetics 10 1775 1783
19. O. Stendahl J. Hartwig E. Brotschi 1980 Distribution of actin-biding protein and myosin in macrophages during spreading and phagocytosis Journal of cell biology 84 215 224
20. T. A. Thanaraj F. Clark 2001 Human GC-AG alternative intron isoforms with weak donor sites show enhanced consensus at acceptor exon positions Nucleic Acids Research 29 12 2581 2593
21. www.ncbi.nlm.nih.gov
22. www.expasy.org