Exon trapping analysis of c.301-19G > A in intron 1 of the SHH gene in a patient with a microform of holoprosencephaly

European Journal of Medical Genetics

Volumn 54, Issue 2, 2011, Pages 130-135

  Kulseth, Mari Ann ^a   Lyle, Robert ^a   Rødningen, Olaug K ^a   Sorte, Hanne ^a   Prescott, Trine ^a  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

Blood; Exon trapping; Fibroblasts; Gene expression; Holoprosencephaly; Minigene; SHH; Splice mutation; Splicing; Variant of uncertain significance

Indexed keywords

SONIC HEDGEHOG PROTEIN;

ARTICLE; CASE REPORT; CHILD; CHOANA ATRESIA; EXON; FEMALE; GENE INACTIVATION; GENETIC ANALYSIS; HEAD CIRCUMFERENCE; HOLOPROSENCEPHALY; HUMAN; HUMAN CELL; INTRON; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; RESPIRATORY DISTRESS; RNA SPLICING; SPEECH DISORDER; SYNDACTYLY; URETHRA OBSTRUCTION;

CELL LINE; DNA MUTATIONAL ANALYSIS; EXONS; HEDGEHOG PROTEINS; HOLOPROSENCEPHALY; HUMANS; INTRONS; MALE; POINT MUTATION; RNA SPLICING; TRANSFECTION;

ERINACEIDAE;

EID: 79952486617     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.10.011     Document Type: Article

References (20)

1. Baralle D., Lucassen A., Buratti E. Missed threads. The impact of pre-mRNA splicing defects on clinical practice. EMBO Rep. 2009, 10:810-816.
2. Brunak S., Engelbrecht J., Knudsen S. Prediction of human mRNA donor and acceptor sites from the DNA sequence. J. Mol. Biol. 1991, 220:49-65.
3. Buratti E., Baralle M., Baralle F.E. Defective splicing, disease and therapy: searching for master checkpoints in exon definition. Nucleic Acids Res. 2006, 34:3494-3510.
4. Cogan J.D., Prince M.A., Lekhakula S., Bundey S., Futrakul A., McCarthy E.M., Phillips J.A. A novel mechanism of aberrant pre-mRNA splicing in humans. Hum. Mol. Genet. 1997, 6:909-912.
5. Cooper T.A., Wan L., Dreyfuss G. RNA and disease. Cell 2009, 136:777-793.
6. Engel K., Nuoffer J.M., Muhlhausen C., Klaus V., Largiader C.R., Tsiakas K., Santer R., Wermuth B., Haberle J. Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency. Mol. Genet. Metab. 2008, 94:292-297.
7. Faa' V., Incani F., Meloni A., Corda D., Masala M., Baffico A.M., Seia M., Cao A., Rosatelli M.C. Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR)gene. J. Biol. Chem. 2009.
8. Martinez-Contreras R., Fisette J.F., Nasim F.U., Madden R., Cordeau M., Chabot B. Intronic binding sites for hnRNP A/B and hnRNP F/H proteins stimulate pre-mRNA splicing. PLoS Biol. 2006, 4:e21.
9. Masuda A., Shen X.M., Ito M., Matsuura T., Engel A.G., Ohno K. hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome. Hum. Mol. Genet. 2008, 17:4022-4035.
10. Maydan G., Andresen B.S., Madsen P.P., Zeigler M., Raas-Rothschild A., Zlotogorski A., Gutman A., Korman S.H. TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping. J. Inherit. Metab. Dis. 2006, 29:620-626.
11. Mingand J.E., Muenke M. Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am. J. Hum. Genet. 2002, 71:1017-1032.
12. Orioliand I.M., Castilla E.E. Epidemiology of holoprosencephaly: prevalence and risk factors. Am. J. Med. Genet. C Semin. Med. Genet. 2010, 154C:13-21.
13. Pohlenz J., Dumitrescu A., Aumann U., Koch G., Melchior R., Prawitt D., Refetoff S. Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene. J. Clin. Endocrinol. Metab. 2002, 87:336-339.
14. Reese M.G., Eeckman F.H., Kulp D., Haussler D. Improved splice site detection in Genie. J. Comput. Biol. 1997, 4:311-323.
15. Roessler E., El-Jaick K.B., Dubourg C., Velez J.I., Solomon B.D., Pineda-Alvarez D.E., Lacbawan F., Zhou N., Ouspenskaia M., Paulussen A., Smeets H.J., Hehr U., Bendavid C., Bale S., Odent S., David V., Muenke M. The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis. Hum. Mutat. 2009, 30:E921-E935.
16. Roesslerand E., Muenke M. The molecular genetics of holoprosencephaly. Am. J. Med. Genet. C Semin. Med. Genet. 2010, 154C:52-61.
17. Schaub M.C., Lopez S.R., Caputi M. Members of the heterogeneous nuclear ribonucleoprotein H family activate splicing of an HIV-1 splicing substrate by promoting formation of ATP-dependent spliceosomal complexes. J. Biol. Chem. 2007, 282:13617-13626.
18. Solomon B.D., Mercier S., Velez J.I., Pineda-Alvarez D.E., Wyllie A., Zhou N., Dubourg C., David V., Odent S., Roessler E., Muenke M. Analysis of genotype-phenotype correlations in human holoprosencephaly. Am. J. Med. Genet. C Semin. Med. Genet. 2010, 154C:133-141.
19. Spurdle A.B., Couch F.J., Hogervorst F.B., Radice P., Sinilnikova O.M. Prediction and assessment of splicing alterations: implications for clinical testing. Hum. Mutat. 2008, 29:1304-1313.
20. Wangand G.S., Cooper T.A. Splicing in disease: disruption of the splicing code and the decoding machinery. Nat. Rev. Genet. 2007, 8:749-761.