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(Investigative Ophthalmology and Visual Science. 2006;47:5283-5287.)
© 2006 by The Association for Research in Vision and Ophthalmology, Inc.
DOI:  10.1167/iovs.06-0206
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Mapping of a Gene Causing Brittle Cornea Syndrome in Tunisian Jews to 16q24

Almogit Abu,1,2 Moshe Frydman,1,3 Dina Marek,1,2 Eran Pras,3,4 Chaim Stolovitch,3,5 Ayala Aviram-Goldring,1,3 Shlomit Rienstein,1 Haike Reznik-Wolf,1 and Elon Pras1,3

1From the Danek Gartner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel; 2The Mina and Everard Goodman Faculty of Life Sciences, Bar Ilan University, Ramat Gan, Israel; the 4Department of Ophthalmology, Asaf Harofeh Medical Center, Zerifin, Israel; the 5Department of Ophthalmology, Tel Aviv Medical Center, Tel Aviv, Israel; and the 3Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

PURPOSE. To map the gene that causes brittle cornea syndrome (BCS).

METHODS. Five patients from four families, all of Jewish Tunisian origin, were recruited into the study. Four of the five patients had red hair. DNA from the five patients and 104 control chromosomes was typed with seven 16q polymorphic markers surrounding the hair color gene, MC1R.

RESULTS. A common haplotype in the homozygous state, comprising five markers spanning 4.7 Mb on chromosome 16q24, was found in all five patients but in none of the control subjects (P < 0.00001).

CONCLUSIONS. The gene that causes BCS maps to a 4.7-Mb interval, between the markers D16S3423 and D16S3425 on 16q24.






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