52
Views
12
CrossRef citations to date
0
Altmetric
Research Article

Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations

, , &
Pages 247-255 | Published online: 08 Jul 2009

References

  • Engle E, McIntosh N, Yamada K, Lee B, Johnson R, O'Keefe M, Letson R, London A, Ballard E, Ruttum M, Matsumoto N, Saito N, Collins M, Morris L, Del Monte M, Magli A, de Berardinis T. CFEOMI, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. BMC Genet 2002;3:3.
  • Engle E, Marondel I, Houtman W, de Vries B, Loewenstein A, Lazar M, Ward D, Kucherlapati R, Beggs A. Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. Am J Hum Genet 1995;57: 1086–1094.
  • Wang S, Zwaan J, Mullaney P, Jabak M, Al-Awad A, Beggs A, Engle E. Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal iiqi. Am J Hum Genet 1998;63: 517–525.
  • Doherty E, Macy M, Wang S, Dykeman C, Melanson M, Engle E. CFE0M3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. Invest Ophthalmol Vis Sci 199940: 1687–1694.
  • Yamada K, Andrews C, Chan W, McKeown C, Magli A, de Berardinis T, Loewenstein A, Lazar M, O'Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, Del Monte M, Johnson R, Uyama E, Houtman W, de Vries B, Carlow T, Hart B, Krawiecki N, Shoffner J, Vogel M, Katowitz J, Goldstein S, Levin A, Sener E, Ozturk B, Akarsu A, Brodsky M, Hanisch F, Cruse R, Zubcov A, Robb R, Roggenkaemper P, Gottlob I, Kowal L, Battu R, Traboulsi E, Franceschini P, Newlin A, Demer J, Engle E. Heterozygous mutations of the kinesin KIF2IA in congenital fibrosis of the extraocular muscles type i (CFEOMI). Nat Genet 2003; 35:318–321.
  • Nakano M, Yamada K, Fain J, Sener E, Selleck C, Awad A, Zwaan J, Mullaney P, Bosley T, Engle E. Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nat Genet 2001;29: 315–320.
  • Miki H, Setou M, Kaneshiro K, Hirokawa N. All kinesin superfamily protein, KIF, genes in mouse and human. Proc Natl Acad Sci U S A 2001;98:7004–7011.
  • Venkatesh C, Pillai V, Raghunath A, Prakash V, Vathsala R, Pericak-Vance M, Kumar A. Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family. Mo/ Vis 2002;8:294–297.
  • Frommer M, McDonald L, Millar D, Collis C, Watt F, Grigg G, Molloy P, Paul C. A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands. Proc Natl Acad Sci USA 1992;89: I 827-183 I.
  • Krawczak M, Ball E, Cooper D. Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitutions in human genes. Am J Hum Genet 1998;63: 474–488.
  • Tornaletti S, Pfeifer G. Complete and tissue-independent methylation of CpG sites in the p53 gene: implications for mutations in human cancers. Oncogene 1995;10:1493–1499.
  • Andrews JD, Mancini DN, Singh SM, Rodenhiser DI. Site and sequence specific DNA methylation in the neurofibromatosis (NFL) gene includes C5839T: the site of the recurrent substitution mutation in exon 31. Hum Mol Genet 1996;5: 503–507.
  • Rodenhiser D, Chakraborty P, Andrews J, Ainsworth P, Mancini D, Lopes E, Singh S. Heterogenous point mutations in the BRCAr breast cancer susceptibility gene occur in high frequency at the site of homonucleotide tracts, short repeats and methylatable CpG/ CpNpG motifs. Oncogene 1996;12: 2623–2629.
  • Cooper DN, Youssoufian H. The CpG dinucleotide and human genetic disease. Hum Genet 1988;78: 151–155.
  • Jadayel D, Fain P, Upadhyaya M, Ponder M, Huson S, Carey J, Fryer A, Mathew C, Barker D, Ponder B. Paternal origin of new mutations in von Recklinghausen neurofibromatosis. Nature 1990;343: 558–559.
  • Wilkin D, Szabo J, Cameron R, Henderson S, Bellus G, Mack M, Kaitila I, Loughlin J, Munnich A, Sykes B, Bonaventure J, Francomano C. Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. Am J Hum Genet 1998;63:711–716.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.