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CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients

Anja K Mayer, Caroline Van Cauwenbergh UGent, Christine Rother, Britta Baumann, Peggy Reuter, Elfride De Baere UGent, Bernd Wissinger and Susanne Kohl (2017) HUMAN MUTATION. 38(11). p.1579-1591
abstract
Achromatopsia is a rare autosomal recessive cone disorder characterized by color vision defects, photophobia, nystagmus, and severely reduced visual acuity. The disease is caused by mutations in genes encoding crucial components of the cone phototransduction cascade (CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H) or in ATF6, involved in the unfolded protein response. CNGB3 encoding the beta subunit of the cyclic nucleotide-gated ion channel in cone photoreceptors is the major achromatopsia gene. Here, we present a comprehensive spectrum of CNGB3 mutations and their prevalence in a cohort of 1074 independent families clinically diagnosed with achromatopsia. Of these, 485 (45.2%) carried mutations in CNGB3. We identified a total of 98 different potentially disease-causing CNGB3 variants, 58 of which are novel. About 10% of patients with CNGB3 mutations only harbored a single heterozygous variant. Therefore, we performed quantitative real-time PCR in 43 of such single heterozygotes in search of the missing allele, followed by microarray-based comparative genomic hybridization and breakpoint mapping. We discovered nine different heterozygous copy number variations encompassing one to 10 consecutive exons in 16 unrelated patients. Moreover, one additional patient with a homozygous CNGB3 deletion encompassing exons 4-18 was identified, highlighting the importance of CNV analysis for this gene.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
CGMP-GATED CHANNEL, ALPHA-SUBUNIT, TOTAL COLOURBLINDNESS, GENETIC-BASIS, CONE, DEGENERATION, DISORDERS, PHENOTYPE, ALIGNMENT, VARIANTS, achromatopsia, CNGB3, copy number variations, mutation spectrum and prevalence
journal title
HUMAN MUTATION
Hum. Mutat.
volume
38
issue
11
pages
1579 - 1591
Web of Science type
Article
Web of Science id
000412835700015
ISSN
1059-7794
DOI
10.1002/humu.23311
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
8529929
handle
http://hdl.handle.net/1854/LU-8529929
date created
2017-08-30 14:00:30
date last changed
2017-10-25 09:37:38
@article{8529929,
  abstract     = {Achromatopsia is a rare autosomal recessive cone disorder characterized by color vision defects, photophobia, nystagmus, and severely reduced visual acuity. The disease is caused by mutations in genes encoding crucial components of the cone phototransduction cascade (CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H) or in ATF6, involved in the unfolded protein response. CNGB3 encoding the beta subunit of the cyclic nucleotide-gated ion channel in cone photoreceptors is the major achromatopsia gene. Here, we present a comprehensive spectrum of CNGB3 mutations and their prevalence in a cohort of 1074 independent families clinically diagnosed with achromatopsia. Of these, 485 (45.2\%) carried mutations in CNGB3. We identified a total of 98 different potentially disease-causing CNGB3 variants, 58 of which are novel. About 10\% of patients with CNGB3 mutations only harbored a single heterozygous variant. Therefore, we performed quantitative real-time PCR in 43 of such single heterozygotes in search of the missing allele, followed by microarray-based comparative genomic hybridization and breakpoint mapping. We discovered nine different heterozygous copy number variations encompassing one to 10 consecutive exons in 16 unrelated patients. Moreover, one additional patient with a homozygous CNGB3 deletion encompassing exons 4-18 was identified, highlighting the importance of CNV analysis for this gene.},
  author       = {Mayer, Anja K and Van Cauwenbergh, Caroline and Rother, Christine and Baumann, Britta and Reuter, Peggy and De Baere, Elfride and Wissinger, Bernd and Kohl, Susanne},
  issn         = {1059-7794},
  journal      = {HUMAN MUTATION},
  keyword      = {CGMP-GATED CHANNEL,ALPHA-SUBUNIT,TOTAL COLOURBLINDNESS,GENETIC-BASIS,CONE,DEGENERATION,DISORDERS,PHENOTYPE,ALIGNMENT,VARIANTS,achromatopsia,CNGB3,copy number variations,mutation spectrum and prevalence},
  language     = {eng},
  number       = {11},
  pages        = {1579--1591},
  title        = {CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients},
  url          = {http://dx.doi.org/10.1002/humu.23311},
  volume       = {38},
  year         = {2017},
}

Chicago
Mayer, Anja K, Caroline Van Cauwenbergh, Christine Rother, Britta Baumann, Peggy Reuter, Elfride De Baere, Bernd Wissinger, and Susanne Kohl. 2017. “CNGB3 Mutation Spectrum Including Copy Number Variations in 552 Achromatopsia Patients.” Human Mutation 38 (11): 1579–1591.
APA
Mayer, A. K., Van Cauwenbergh, C., Rother, C., Baumann, B., Reuter, P., De Baere, E., Wissinger, B., et al. (2017). CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. HUMAN MUTATION, 38(11), 1579–1591.
Vancouver
1.
Mayer AK, Van Cauwenbergh C, Rother C, Baumann B, Reuter P, De Baere E, et al. CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. HUMAN MUTATION. 2017;38(11):1579–91.
MLA
Mayer, Anja K, Caroline Van Cauwenbergh, Christine Rother, et al. “CNGB3 Mutation Spectrum Including Copy Number Variations in 552 Achromatopsia Patients.” HUMAN MUTATION 38.11 (2017): 1579–1591. Print.