Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome

Abu, Almogit; Frydman, Moshe; Marek, Dina; Pras, Eran; Nir, Uri; Reznik-Wolf, Haike; Pras, Elon

doi:10.1016/j.ajhg.2008.04.001

Cited by 139Connective tissue disorders researchCorneal surgery and disordersGenomics and Rare Diseases

Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome

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Abu, Almogit, Frydman, Moshe, Marek, Dina, Pras, Eran, Nir, Uri, Reznik-Wolf, Haike, Pras, Elon·2008·The American Journal of Human Genetics

DOI 10.1016/j.ajhg.2008.04.001PMC PMC2427192

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Abstract

Brittle cornea syndrome (BCS) is an autosomal-recessive disorder characterized by a thin cornea that tends to perforate, causing progressive visual loss and blindness. Additional systemic symptoms such as joint hypermotility, hyperlaxity of the skin, and kyphoscoliosis place BCS among the connective-tissue disorders. Previously, we assigned the disease gene to a 4.7 Mb interval on chromosome 16q24. In order to clone the BCS gene, we first narrowed the disease locus to a 2.8 Mb interval and systematically sequenced genes expressed in connective tissue in this chromosomal segment. We have identified two frameshift mutations in the Zinc-Finger 469 gene (ZNF469). In five unrelated patients of Tunisian Jewish ancestry, we found a 1 bp deletion at position 5943 (5943 delA), and in an inbred Palestinian family we detected a single-nucleotide deletion at position 9527 (9527 delG). The function of ZNF469 is unknown. However, a 30% homology to a number of collagens suggests that it could act as a transcription factor involved in the synthesis and/or organization of collagen fibers.

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Abu et al. [2008] first mapped the BCS gene to a 4.7 Mb region on chromosome 16q24 and later identified recessive mutations in ZNF469.
“Abu et al. [2008] first mapped the BCS gene to a 4.7 Mb region on chromosome 16q24 and later identified recessive mutations in ZNF469 (MIM 612078).”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Abu et al., 2008
To provide a comprehensive overview of the clinical phenotype of BCS, the authors reviewed data on 51 patients (ZNF469: n=32; PRDM5: n=19).
“To provide a comprehensive overview of the clinical phenotype of BCS, we reviewed the data on 51 patients (ZNF469: n¼ 32; PRDM5: n ¼ 19) (Table S1) [Al-Hussain et al., 2004;Abu et al., 2008;Christensen et al., 2010;Khan et al., 2010;Burkitt Wright et al., 2011;Al-Owain et al., 2012;Aldahmesh et al., 2012;Rohrbach et al., 2013;Ramappa et al., 2014;Avgitidou et al., 2015b;Porter et al., 2015].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Abu et al., 2008

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Brittle cornea syndrome: A systemic review of disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years
Skalická, P., Porter, L., Brejchova, K., Malinka, F., Ďuďáková, Ľ., & Lišková, P. (2019) · UCL Discovery (University College London)

Authors: Abu, A., Frydman, M., Marek, D., Pras, E., Nir, U., Reznik-Wolf, H., & Pras, E.
Affiliations: Bar-Ilan University (IL)
Tel Aviv University (IL)
Corresponding author: Pras, Elon
ORCID: Frydman, Moshe
Nir, Uri
Pras, Elon
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 2008-05
Volume: 82
Issue: 5
Pages: 1217-1222
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1016/j.ajhg.2008.04.001
PMC: PMC2427192
OpenAlex: W2021047349
Cited by: 139
References: 22
Citations by year: 2026: 2 · 2025: 8 · 2024: 14 · 2023: 3 · 2022: 12 · 2021: 9 · 2020: 6 · 2019: 5 · 2018: 7 · 2017: 10 · 2016: 6 · 2015: 9 · 2014: 10 · 2013: 8 · 2012: 9
FWCI: 4.00
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 1905 d)
Locations: The American Journal of Human Genetics (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: Bar-Ilan University
Israel Science Foundation
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Corneal surgery and disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: brittle cornea syndrome, ZNF469, zinc finger proteins, frameshift mutation, connective tissue diseases, corneal perforation, gene cloning, transcription factors
MeSH terms: Corneal Diseases, Genes, Recessive, Humans, Pedigree, Syndrome, Transcription Factors, Frameshift Mutation, Genetic Predisposition to Disease, Fibrillar Collagens

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Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome

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