Molecular genetic analysis in autosomal dominant keratoconus

Y. S. Rabinowitz, I. H. Maumenee, M. K. Lundergan, E. Puffenberger, D. Zhu, S. Antonarakis, Clair Ann Francomano

Research output: Contribution to journalArticle

Abstract

Members in three generations of a family whose propositus had keratoconus were examined by biomicroscopy, with a corneoscope and a computer-assisted videophotokeratoscope. Keratoconus was detected in eight of 15 family members with vertical transmission consistent with autosomal dominant inheritance. Affected individuals displayed variable topographic features. Abortive 'nipple-type' cones were identified in some individuals in successive generations using the computer-assisted videophotokeratoscope and more advanced nipple-type cones detected on biomicroscopy of other family members. We selected a COL6A1 cDNA (the gene encoding the α1 chain of type VI collagen) as a 'candidate gene' to determine cosegregation with the disease locus. Linkage analysis excluded a gene locus for keratoconus on the most telomeric region of chromosome 21 in this family.

Original languageEnglish (US)
Pages (from-to)302-308
Number of pages7
JournalCornea
Volume11
Issue number4
DOIs
StatePublished - 1992

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Keratoconus
Molecular Biology
Nipples
Collagen Type VI
Genes
Chromosomes, Human, Pair 21
Complementary DNA

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Rabinowitz, Y. S., Maumenee, I. H., Lundergan, M. K., Puffenberger, E., Zhu, D., Antonarakis, S., & Francomano, C. A. (1992). Molecular genetic analysis in autosomal dominant keratoconus. Cornea, 11(4), 302-308. https://doi.org/10.1097/00003226-199207000-00005

Molecular genetic analysis in autosomal dominant keratoconus. / Rabinowitz, Y. S.; Maumenee, I. H.; Lundergan, M. K.; Puffenberger, E.; Zhu, D.; Antonarakis, S.; Francomano, Clair Ann.

In: Cornea, Vol. 11, No. 4, 1992, p. 302-308.

Research output: Contribution to journalArticle

Rabinowitz, YS, Maumenee, IH, Lundergan, MK, Puffenberger, E, Zhu, D, Antonarakis, S & Francomano, CA 1992, 'Molecular genetic analysis in autosomal dominant keratoconus', Cornea, vol. 11, no. 4, pp. 302-308. https://doi.org/10.1097/00003226-199207000-00005
Rabinowitz YS, Maumenee IH, Lundergan MK, Puffenberger E, Zhu D, Antonarakis S et al. Molecular genetic analysis in autosomal dominant keratoconus. Cornea. 1992;11(4):302-308. https://doi.org/10.1097/00003226-199207000-00005
Rabinowitz, Y. S. ; Maumenee, I. H. ; Lundergan, M. K. ; Puffenberger, E. ; Zhu, D. ; Antonarakis, S. ; Francomano, Clair Ann. / Molecular genetic analysis in autosomal dominant keratoconus. In: Cornea. 1992 ; Vol. 11, No. 4. pp. 302-308.
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