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Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants

Alshamrani, Abdulaziz A. ; Raddadi, Osama ; Schatz, Patrik LU orcid ; Lenzner, Steffen ; Neuhaus, Christine ; Azzam, Eman and Abdelkader, Ehab (2020) In American Journal of Ophthalmology Case Reports 19.
Abstract

Purpose: To report a severe phenotype of retinitis pigmentosa associated with novel mutations in CNGB1. Observations: Six siblings, age range 50–75 years old, were examined using optical coherence tomography and fundus autofluorescene, electroretinogram testing, Goldman visual field testing, and genetic testing using next generation sequencing. In four affected siblings, two novel compound heterozygous variants in CNGB1 were detected: in exon 26 the missense variant c.2603G > A (p.(Gly868Asp)), and in exon 21, the in-frame 12-bp duplication c.2093_2104dupGCGACCTCATCT (p.(Cys698_lle701dup)). One sibling was unaffected and carried neither of the variants, while another sibling had mild macular degeneration changes and carried the... (More)

Purpose: To report a severe phenotype of retinitis pigmentosa associated with novel mutations in CNGB1. Observations: Six siblings, age range 50–75 years old, were examined using optical coherence tomography and fundus autofluorescene, electroretinogram testing, Goldman visual field testing, and genetic testing using next generation sequencing. In four affected siblings, two novel compound heterozygous variants in CNGB1 were detected: in exon 26 the missense variant c.2603G > A (p.(Gly868Asp)), and in exon 21, the in-frame 12-bp duplication c.2093_2104dupGCGACCTCATCT (p.(Cys698_lle701dup)). One sibling was unaffected and carried neither of the variants, while another sibling had mild macular degeneration changes and carried the latter variant in heterozygous status. The affected siblings presented with a phenotype showing markedly constricted visual field, flat scotopic and photopic electroretinogram responses and generalized retinal atrophy. Conclusions and importance: This is the first report of a 12bp in-frame duplication and a missense variant (in compound heterozygous status) in CNGB1, being associated with a severe form of retinitis pigmentosa featuring extensive peripheral and central retinal degeneration. This study expands the molecular genetic basis of CNGB1-related disease.

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author
; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
CNGB1, Novel variant, Retinitis pigmentosa, Rod-cone dystrophy
in
American Journal of Ophthalmology Case Reports
volume
19
article number
100780
publisher
Elsevier
external identifiers
  • pmid:32613137
  • scopus:85087063537
ISSN
2451-9936
DOI
10.1016/j.ajoc.2020.100780
language
English
LU publication?
yes
id
80a5c4f2-fda9-4601-9112-c55d010d55cc
date added to LUP
2020-07-07 09:55:45
date last changed
2025-04-04 14:42:19
@article{80a5c4f2-fda9-4601-9112-c55d010d55cc,
  abstract     = {{<p>Purpose: To report a severe phenotype of retinitis pigmentosa associated with novel mutations in CNGB1. Observations: Six siblings, age range 50–75 years old, were examined using optical coherence tomography and fundus autofluorescene, electroretinogram testing, Goldman visual field testing, and genetic testing using next generation sequencing. In four affected siblings, two novel compound heterozygous variants in CNGB1 were detected: in exon 26 the missense variant c.2603G &gt; A (p.(Gly868Asp)), and in exon 21, the in-frame 12-bp duplication c.2093_2104dupGCGACCTCATCT (p.(Cys698_lle701dup)). One sibling was unaffected and carried neither of the variants, while another sibling had mild macular degeneration changes and carried the latter variant in heterozygous status. The affected siblings presented with a phenotype showing markedly constricted visual field, flat scotopic and photopic electroretinogram responses and generalized retinal atrophy. Conclusions and importance: This is the first report of a 12bp in-frame duplication and a missense variant (in compound heterozygous status) in CNGB1, being associated with a severe form of retinitis pigmentosa featuring extensive peripheral and central retinal degeneration. This study expands the molecular genetic basis of CNGB1-related disease.</p>}},
  author       = {{Alshamrani, Abdulaziz A. and Raddadi, Osama and Schatz, Patrik and Lenzner, Steffen and Neuhaus, Christine and Azzam, Eman and Abdelkader, Ehab}},
  issn         = {{2451-9936}},
  keywords     = {{CNGB1; Novel variant; Retinitis pigmentosa; Rod-cone dystrophy}},
  language     = {{eng}},
  publisher    = {{Elsevier}},
  series       = {{American Journal of Ophthalmology Case Reports}},
  title        = {{Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants}},
  url          = {{http://dx.doi.org/10.1016/j.ajoc.2020.100780}},
  doi          = {{10.1016/j.ajoc.2020.100780}},
  volume       = {{19}},
  year         = {{2020}},
}