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An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients

(2015) HUMAN MUTATION. 36(1). p.39-42
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Abstract
Autosomal-recessive Stargardt disease (STGD1) is hallmarked by a large proportion of patients with a single heterozygous causative variant in the disease gene ABCA4. Braun et al. () reported deep intronic variants of ABCA4 in STGD1 patients with one coding variant, prompting us to perform an augmented screen in 131 Belgian STGD1 patients with one or no ABCA4 variant to uncover deep intronic causal ABCA4 variants. This revealed a second variant in 28.6% of cases. Twenty-six percent of these carry the same causal variant c.4539+2001G>A (V4). Haplotyping in V4 carriers showed a common region of 63kb, suggestive of a founder mutation. Genotype-phenotype correlations suggest a moderate-to-severe impact of V4 on the STGD1 phenotype. In conclusion, V4 occurs in a high fraction of Belgian STGD1 patients and represents the first deep intronic founder mutation in ABCA4. This emphasizes the importance of augmented molecular genetic testing of ABCA4 in Belgian STGD1.
Keywords
genotype-phenotype correlations, founder, DISEASE, MUTATION, GENE, deep intronic mutation, ABCA4, STGD1, Stargardt

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Citation

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Chicago
Bauwens, Miriam, Julie De Zaeytijd, Nicole Weisschuh, Susanne Kohl, Françoise Meire, Karin Dahan, Fanny Depasse, et al. 2015. “An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients.” Human Mutation 36 (1): 39–42.
APA
Bauwens, Miriam, De Zaeytijd, J., Weisschuh, N., Kohl, S., Meire, F., Dahan, K., Depasse, F., et al. (2015). An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients. HUMAN MUTATION, 36(1), 39–42.
Vancouver
1.
Bauwens M, De Zaeytijd J, Weisschuh N, Kohl S, Meire F, Dahan K, et al. An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients. HUMAN MUTATION. 2015;36(1):39–42.
MLA
Bauwens, Miriam, Julie De Zaeytijd, Nicole Weisschuh, et al. “An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients.” HUMAN MUTATION 36.1 (2015): 39–42. Print.
@article{5846962,
  abstract     = {Autosomal-recessive Stargardt disease (STGD1) is hallmarked by a large proportion of patients with a single heterozygous causative variant in the disease gene ABCA4. Braun et al. () reported deep intronic variants of ABCA4 in STGD1 patients with one coding variant, prompting us to perform an augmented screen in 131 Belgian STGD1 patients with one or no ABCA4 variant to uncover deep intronic causal ABCA4 variants. This revealed a second variant in 28.6\% of cases. Twenty-six percent of these carry the same causal variant c.4539+2001G{\textrangle}A (V4). Haplotyping in V4 carriers showed a common region of 63kb, suggestive of a founder mutation. Genotype-phenotype correlations suggest a moderate-to-severe impact of V4 on the STGD1 phenotype. In conclusion, V4 occurs in a high fraction of Belgian STGD1 patients and represents the first deep intronic founder mutation in ABCA4. This emphasizes the importance of augmented molecular genetic testing of ABCA4 in Belgian STGD1.},
  author       = {Bauwens, Miriam and De Zaeytijd, Julie and Weisschuh, Nicole and Kohl, Susanne and Meire, Fran\c{c}oise and Dahan, Karin and Depasse, Fanny and De Jaegere, Sarah and De Ravel, Thomy and De Rademaeker, Marjan and Loeys, Bart and Coppieters, Frauke and Leroy, Bart and De Baere, Elfride},
  issn         = {1059-7794},
  journal      = {HUMAN MUTATION},
  language     = {eng},
  number       = {1},
  pages        = {39--42},
  title        = {An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients},
  url          = {http://dx.doi.org/10.1002/humu.22716},
  volume       = {36},
  year         = {2015},
}

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