Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome Almogit Abu, Moshe Frydman, Dina Marek, Eran Pras, Uri Nir, Haike Reznik-Wolf,

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Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome Almogit Abu, Moshe Frydman, Dina Marek, Eran Pras, Uri Nir, Haike Reznik-Wolf, Elon Pras The American Journal of Human Genetics Volume 82, Issue 5, Pages 1217-1222 (May 2008) DOI: 10.1016/j.ajhg.2008.04.001 Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 1 Clinical features of BCS Patients (A) Corneal opacities due to scars. (B) Keratoglobus. (C) Hyperlaxity of the joints. The American Journal of Human Genetics 2008 82, 1217-1222DOI: (10.1016/j.ajhg.2008.04.001) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 2 Haplotypes of Chromosome 16q24 in Tunisian Jewish Patients Top: Ancestral chromosome. In patient no. 5, deviation from the ancestral chromosome at the markers D16S3425 and D16S3436 on the telomeric and centromeric sides, respectively, set the disease gene interval to 4 Mb in the Tunisian patients. The American Journal of Human Genetics 2008 82, 1217-1222DOI: (10.1016/j.ajhg.2008.04.001) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 3 Palestinian Family Pedigree and Chromosome 16q24 Haplotypes Recombination event in D16S3422 in individual II:4 sets this marker as the centromeric boundary. Allele 4 in D16S3420 in individual II:1 and allele 7 in D16S3437 in individual III:1 reflect mutations in these markers. The American Journal of Human Genetics 2008 82, 1217-1222DOI: (10.1016/j.ajhg.2008.04.001) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 4 Mutations in ZNF469 Cause BCS (A) Sequence chromatogram of a control subject (top) and a Tunisian patient with a homozygous deletion of A at position 5943 (bottom). (B) Sequence chromatogram of a control subject (top) and a Palestinian patient with a homozygous deletion of G at position 9527 (bottom). (C) SmaI restriction digests of the Tunisian Jewish mutation. In the carrier chromosome, the 533bp product is cleaved to yield 388 bp and 145 bp fragments. Molecular-weight marker (M), homozygotes (lanes 1 and 2), heterozygotes (lanes 3 and 4), and control subjects (lanes 5 and 6). (D) ABI 3100 assay for the detection of the Palestinian mutation. The 1bp difference is evident in homozygotes (1 and 2) compared to controls (5 and 6). Heterozygotes appear as two peaks (3 and 4). The American Journal of Human Genetics 2008 82, 1217-1222DOI: (10.1016/j.ajhg.2008.04.001) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 5 ZNF469-Expression Studies The 559bp RT-PCR product in cornea (c), sclera (s), skin fibroblasts (f) and striated muscle (m). M denotes molecular-weight marker. The American Journal of Human Genetics 2008 82, 1217-1222DOI: (10.1016/j.ajhg.2008.04.001) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 6 Partial Homology of ZNF469 to COL1A1 The Smith-Waterman algorithm was used to calculate local alignment (EMBOSS). Top line: ZNF469. The American Journal of Human Genetics 2008 82, 1217-1222DOI: (10.1016/j.ajhg.2008.04.001) Copyright © 2008 The American Society of Human Genetics Terms and Conditions