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Correspondence |

Further Information Regarding KERA and Recessive Cornea Plana

Arif O. Khan, MD
[+] Author Affiliations

Copyright 2006 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.

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Arch Ophthalmol. 2006;124(9):1371-1372. doi:10.1001/archopht.124.9.1371
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In their article about a Hispanic KERA mutation in the September 2005 issue of the ARCHIVES, Ebenezer et al1 discussed previously reported KERA mutations in a Finnish cohort,2 a Chinese-American patient,2 and a Bangladeshi family.3 They described KERA as encoding 10 conserved leucine-rich regions (LRRs) and stated that previously reported KERA mutations associated with autosomal recessive cornea plana affect 1 of these LRRs.

Ebenezer and colleagues did not reference the nonsense KERA mutation (CGA313TGA) reported in an affected Saudi Arabian family in June 2004,4 and they misstated the number of LRRs that KERA contains. This Saudi mutation is predicted to cause premature protein truncation in exon 3, an exon responsible for coding 2 LRRs not recognized by Ebenezer and colleagues. Human KERA was originally described as encoding 11 LRRs—10 in exon 2 and 1 in exon 3.5 Thereafter, the number of LRRs coded by exon 3 was recognized as 2 rather than 1, making the total number of KERA LRRs 12.6

AUTHOR INFORMATION

Correspondence: Dr Khan, Department of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, PO Box 7191, Riyadh 11462, Saudi Arabia (arif.khan@mssm.edu).

Financial Disclosure: None reported.

REFERENCES

Ebenezer  ND, Patel  CB, Hariprasad  SM.  et al.  Clinical and molecular characterization of a family with autosomal recessive cornea plana. Arch Ophthalmol 2005;1231248- 1253
PubMed
Pellegata  NS, Dieguez-Lucena  JL, Joensuu  T.  et al.  Mutations in KERA, encoding keratocan, cause cornea plana. Nat Genet 2000;2591- 95
PubMed
Lehmann  OJ, El-Ashry  MF, Ebenezer  N.  et al.  A novel keratocan mutation causing autosomal recessive cornea plana. Invest Ophthalmol Vis Sci 2001;423118- 3122
PubMed
Khan  A, Al-Saif  A, Kambouris  M. A novel KERA mutation associated with autosomal recessive cornea plana [errata appear in Ophthalmic Genet. 2004;25:289 and Ophthalmic Genet. 2005;26:195]. Ophthalmic Genet 2004;25147- 152
PubMed
Tasheva  ES, Funderburgh  JL, Funderburgh  ML, Corpuz  LM, Conrad  GW. Structure and sequence of the gene encoding human keratocan. DNA Seq 1999;1067- 74
PubMed
UniProt Consortium,  UniProt: the universal protein resource. http://www.ebi.uniprot.org/index.shtmlAccessed September 5, 2005

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Ebenezer  ND, Patel  CB, Hariprasad  SM.  et al.  Clinical and molecular characterization of a family with autosomal recessive cornea plana. Arch Ophthalmol 2005;1231248- 1253
PubMed
Pellegata  NS, Dieguez-Lucena  JL, Joensuu  T.  et al.  Mutations in KERA, encoding keratocan, cause cornea plana. Nat Genet 2000;2591- 95
PubMed
Lehmann  OJ, El-Ashry  MF, Ebenezer  N.  et al.  A novel keratocan mutation causing autosomal recessive cornea plana. Invest Ophthalmol Vis Sci 2001;423118- 3122
PubMed
Khan  A, Al-Saif  A, Kambouris  M. A novel KERA mutation associated with autosomal recessive cornea plana [errata appear in Ophthalmic Genet. 2004;25:289 and Ophthalmic Genet. 2005;26:195]. Ophthalmic Genet 2004;25147- 152
PubMed
Tasheva  ES, Funderburgh  JL, Funderburgh  ML, Corpuz  LM, Conrad  GW. Structure and sequence of the gene encoding human keratocan. DNA Seq 1999;1067- 74
PubMed
UniProt Consortium,  UniProt: the universal protein resource. http://www.ebi.uniprot.org/index.shtmlAccessed September 5, 2005

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