Journal of the Neurological Sciences
Volume 264, Issue 1 , Pages 56-62 , 15 January 2008

Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea

  • Claudia Provenzano

      Affiliations

    • Institute of Neurobiology and Molecular Medicine, National Council Research, Via Fosso del Cavaliere 100, 00133 Rome, Italy
    • These two authors have contributed equally to this work.
  • ,
  • Liana Veneziano

      Affiliations

    • Institute of Neurobiology and Molecular Medicine, National Council Research, Via Fosso del Cavaliere 100, 00133 Rome, Italy
    • These two authors have contributed equally to this work.
  • ,
  • Richard Appleton

      Affiliations

    • Royal Liverpool Children's Hospital Eaton Rd, Liverpool L12-2AP, United Kingdom
  • ,
  • Marina Frontali

      Affiliations

    • Institute of Neurobiology and Molecular Medicine, National Council Research, Via Fosso del Cavaliere 100, 00133 Rome, Italy
  • ,
  • Donato Civitareale

      Affiliations

    • Institute of Neurobiology and Molecular Medicine, National Council Research, Via Fosso del Cavaliere 100, 00133 Rome, Italy
    • Corresponding Author InformationCorresponding author. Tel.: +39 300649934225; fax: +39 300649934257.

Received 30 April 2007 ,Revised 25 June 2007 ,Accepted 28 June 2007.

References 

  1. Haerer AF, Currier RD, Jackson JF. Hereditary non progressive chorea of early onset. N Engl J Med. 1967;276:1220–1224
  2. Breedveld GJ, Percy AK, MacDonald ME, de Vries BB, Yapijakis C, Dure LS, et al. Clinical and genetic heterogeneity in benign hereditary chorea. Neurology. 2002;59:579–584
  3. Kleiner-Fisman G, Rogaeva E, Halliday W, Houle S, Kawarai T, Sato C, et al. Benign hereditary chorea: clinical, genetic, and pathological findings. Ann Neurol. 2003;54:244–247
  4. Breedveld GJ, van Dongen JW, Danesino C, Guala A, Percy AK, Dure LS, et al. Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet. 2002;11:971–979
  5. Krude H, Schutz B, Biebermann H, von Moers A, Schnabel D, Neitzel H, et al. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest. 2002;109:475–480
  6. Shimohata T, Hara K, Sanpei K, Nunomura JI, Maeda T, Kawachi I, Kanazawa M, Kasuga K, Miyashita A, Kuwano R, Hirota K, Tsuji S, Onodera O, Nishizawa M, Honma Y., in press. Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3–q23.3. Brain.
  7. Civitareale D, Lonigro R, Sinclair AJ, Di Lauro R. A thyroid-specific nuclear protein essential for tissue-specific expression of the thyroglobulin promoter. EMBO J. 1989;8:2537–2542
  8. Damante G, Tell G, Di Lauro R. A unique combination of transcription factors controls differentiation of thyroid cells. Prog Nucleic Acid Res Mol Biol. 2000;66:307–356
  9. Kimura S, Hara Y, Pineau T, Fernandez-Salguero P, Fox CH, Ward JM, et al. The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary. Genes Dev. 1996;10:60–69
  10. Sussel L, Marin O, Kimura S, Rubenstein J. Loss of Nkx2.1 homeobox gene function results in a ventral to dorsal molecular respecification within the basal telencephalon: evidence for a transformation of the pallidum into the striatum. Development. 1999;126:3359–3370
  11. Kawano H, Horie M, Honma S, Kawamura K, Takeuchi K, Kimura S. Aberrant trajectory of ascending dopaminergic pathway in mice lacking Nkx2.1. Exp Neurol. 2003;182:103–112
  12. Marin O, Baker J, Puelles L, Rubenstein JLR. Patterning of the basal telencephalon and hypothalamus is essential for guidance of cortical projections. Development. 2002;129:761–773
  13. Kleiner-Fisman G, Calingasam NY, Putt M. Alteration of striatal neurons in benign hereditary chorea. Mov Disord. 2005;20:1353–1357
  14. Devriendt K, Vanhole C, Matthijs G, de Zegher F. Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. N Engl J Med. 1998;338:1317–1318
  15. Iwatani N, Mabe H, Devriendt K, Kodama M, Miike T. Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. J Pediatr. 2000;137:272–276
  16. Willemsen MA, Breedveld GJ, Wouda S, Otten BJ, Yntema JL, Lammens M, et al. Brain–Thyroid–Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene. Eur J Pediatr. 2005;164:28–30
  17. do Carmo Costa M, Costa C, Silva AP, Evangelista P, Santos L, Ferro A, et al. Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. Neurogenetics. 2005;6:209–215
  18. Pohlenz J, Dumitrescu A, Zundel D, Martine U, Schonberger W, Koo E, et al. Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest. 2002;109:469–473
  19. Moya CM, Perez de Nanclares G, Castano L, Potau N, Bilbao JR, Carrascosa A, et al. Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress. J Clin Endocrinol Metab. 2006;91:1832–1841
  20. Warner JP, Barron LH, Brock DJ. A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes. Mol Cell Probes. 1993;7:235–239
  21. Holmes SE, O'Hearn E, Rosenblatt A, Callahan C, Hwang HS, Ingersoll-Ashworth RG, et al. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nat Genet. 2001;29:377–378Erratum in: Nat Genet 2002;30:123
  22. De Felice M, Damante G, Zannini M, Francis-Lang H, Di Lauro R. Redundant domains contribute to the transcriptional activity of the thyroid transcription factor 1. J Biol Chem. 1995;270:26649–26656
  23. Ambesi-Impiombato FS, Parks LAM, Coon HG. Proc Natl Acad Sci U S A. 1980;77:3455–3459
  24. De Leo R, Miccadei S, Zammarchi E, Civitareale D. Role for p300 in Pax 8 induction of thyroperoxidase gene expression. J Biol Chem. 2000;275:34100–34105
  25. Ghaffari M, Zeng X, Whitsett JA, Yan C. Nuclear localization domain of thyroid transcription factor-1 in respiratory epithelial cells. Biochem J. 1997;328:757–761
  26. Christophe-Hobertus C, Duquesne V, Pichon B, Roger PP, Christophe D. Critical residues of the homeodomain involved in contacting DNA bases also specify the nuclear accumulation of thyroid transcription factor-1. Eur J Biochem. 1999;265:491–497
  27. Asmus F, Horber V, Pohlenz J. A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. Neurology. 2005;64:1952–1954
  28. Taddei I, Morishima M, Huynh T, Lindsay EA. Genetic factors are major determinants of phenotypic variability in a mouse model of the Digeorge/del22q11 syndromes. Proc Natl Acad Sci U S A. 2001;98:11428–11431
  29. Dixon J, Jones NC, Sandell LL, Jayasinghe SM, Crane J, Rey JP, et al. Tcaf1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. Proc Natl Acad Sci U S A. 2006;103:13403–13408
  30. Guala A, Nocita G, Di Maria E, Mandich P, Provera S, Cerruti Mainardi P, et al. Benign hereditary chorea: a rare cause of disability. Riv Ital Pediatr. 2001;27:150–152(suppl)
  31. Harper PS. Benign hereditary chorea. Clinical and genetic aspects. Clin Genet. 1978;13:85–95
  32. de Vries BB, Arts WF, Breedveld GJ, Hoogeboom JJ, Niermeijer MF, Heutink P. Benign hereditary chorea of early onset maps to chromosome 14q. Am J Hum Genet. 2000;66:136–142
  33. Mussel GM, Dure L, Percy AK. Benign familial chorea: clinical characterization of an Alabama pedigree. Neurology. 1995;45:A:148
  34. Doyle DA, Gonzalez I, Thomas B, Scavina M. Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. J Pediatr. 2004;145:190–193
  35. Devos D, Vuillaume I, de Becdelievre A, de Martinville B, Dhaenens CM, Cuvellier JC, et al. New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes. Mov Disord. 2006;21:2237–2240

PII: S0022-510X(07)00488-1

doi: 10.1016/j.jns.2007.06.056

Journal of the Neurological Sciences
Volume 264, Issue 1 , Pages 56-62 , 15 January 2008