Coexistence of macular corneal dystrophy types I and II in a single sibship

Ning Pu Liu, Jennifer Baldwin, Felicia Lennon, Jeffrey M. Stajich, Eugene J M A Thonar, Margaret A Pericak-Vance, Gordon K. Klintworth, Jeffery M Vance

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

Background. Macular corneal dystrophy (MCD) is an inherited autosomal recessive disorder that has been subdivided into two primary immunophenotypes, MCD types I and II. The MCD type I gene has been localised previously to chromosome 16q22 and suggestive evidence provided that MCD type II gene is also linked to this region. Here an unusual family is reported where both MCD types I and II are found in a single sibship. Methods. Immunoreactivity to an anti-keratan sulphate monoclonal antibody (5-D-4) was evaluated in patients' serum and in corneal tissue obtained at keratoplasty. Chromosomal haplotypes were constructed using microsatellite repeat markers spanning the region of the MCD type I locus. Results. Immunological studies demonstrated that two of the affected siblings have MCD type II while one has MCD type I. Haplotype analysis suggests that all three affected sibs inherited one identical parental haplotype. However, the two MCD types differ in their alternative chromosome with both MCD type II children sharing an identical haplotype, different from their MCD type I sibling. Conclusion. The findings in this study support the hypothesis that the genes for MCD types I and II co-localise to the same region of chromosome 16 and are likely to be due to allelic manifestations of the same abnormal gene.

Original languageEnglish
Pages (from-to)241-244
Number of pages4
JournalBritish Journal of Ophthalmology
Volume82
Issue number3
StatePublished - Mar 1 1998
Externally publishedYes

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Haplotypes
Microsatellite Repeats
Genes
Siblings
Chromosomes
Keratan Sulfate
Type II Macular Corneal Dystrophy
Corneal type 1 Macular dystrophy
Chromosomes, Human, Pair 16
Corneal Transplantation
Monoclonal Antibodies
Serum

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Liu, N. P., Baldwin, J., Lennon, F., Stajich, J. M., Thonar, E. J. M. A., Pericak-Vance, M. A., ... Vance, J. M. (1998). Coexistence of macular corneal dystrophy types I and II in a single sibship. British Journal of Ophthalmology, 82(3), 241-244.

Coexistence of macular corneal dystrophy types I and II in a single sibship. / Liu, Ning Pu; Baldwin, Jennifer; Lennon, Felicia; Stajich, Jeffrey M.; Thonar, Eugene J M A; Pericak-Vance, Margaret A; Klintworth, Gordon K.; Vance, Jeffery M.

In: British Journal of Ophthalmology, Vol. 82, No. 3, 01.03.1998, p. 241-244.

Research output: Contribution to journalArticle

Liu, NP, Baldwin, J, Lennon, F, Stajich, JM, Thonar, EJMA, Pericak-Vance, MA, Klintworth, GK & Vance, JM 1998, 'Coexistence of macular corneal dystrophy types I and II in a single sibship', British Journal of Ophthalmology, vol. 82, no. 3, pp. 241-244.
Liu NP, Baldwin J, Lennon F, Stajich JM, Thonar EJMA, Pericak-Vance MA et al. Coexistence of macular corneal dystrophy types I and II in a single sibship. British Journal of Ophthalmology. 1998 Mar 1;82(3):241-244.
Liu, Ning Pu ; Baldwin, Jennifer ; Lennon, Felicia ; Stajich, Jeffrey M. ; Thonar, Eugene J M A ; Pericak-Vance, Margaret A ; Klintworth, Gordon K. ; Vance, Jeffery M. / Coexistence of macular corneal dystrophy types I and II in a single sibship. In: British Journal of Ophthalmology. 1998 ; Vol. 82, No. 3. pp. 241-244.
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