Novel causative variants in patients with achromatopsia
Abdelkader, Ehab ; Brandau, Oliver LU ; Bergmann, Carsten ; AlSalamah, Nuha ; Nowilaty, Sawsan and Schatz, Patrik LU
(2018)
In Ophthalmic Genetics
39(6).
p.678-683
- Abstract
Purpose: To report five novel genetic variants in seven unrelated consanguineous families with achromatopsia (ACHM). Methods: Patients were examined with multimodal retinal imaging and full-field electroretinography (ffERG). Genetic testing was conducted using next-generation sequencing (NGS). Results: Three novel homozygous variants were detected in CNGA3: a missense c.967G > C (p.Ala323Pro) variant was detected in exon 8 (one patient), a splice site variant c.101 + 1G > A in intron 2 (three patients), and a splice site variant c.395 + 1G > T in intron 4(one patient). Another two novel variants were found in PDE6C: a homozygous missense variant c.1899C > A (p.His633Gln) in exon 15 (one patient) and a homozygous splice site... (More)
Purpose: To report five novel genetic variants in seven unrelated consanguineous families with achromatopsia (ACHM). Methods: Patients were examined with multimodal retinal imaging and full-field electroretinography (ffERG). Genetic testing was conducted using next-generation sequencing (NGS). Results: Three novel homozygous variants were detected in CNGA3: a missense c.967G > C (p.Ala323Pro) variant was detected in exon 8 (one patient), a splice site variant c.101 + 1G > A in intron 2 (three patients), and a splice site variant c.395 + 1G > T in intron 4(one patient). Another two novel variants were found in PDE6C: a homozygous missense variant c.1899C > A (p.His633Gln) in exon 15 (one patient) and a homozygous splice site variant c.1072-1G > C in intron 7 (one patient). Mutation segregation assessment was possible in 3 of the 7 families. All patients had nonrecordable ffERG 30-Hz flicker responses, reduced single-flash cone responses but preserved rod responses. Patients presented with variable degrees of foveal outer retinal layer loss and variable patterns of foveal hyperautofluorescence. Conclusions: These novel variants expand the genotypes associated with ACHM and may help in future therapy development for ACHM.
(Less)
- author
- Abdelkader, Ehab
; Brandau, Oliver
LU
; Bergmann, Carsten
; AlSalamah, Nuha
; Nowilaty, Sawsan
and Schatz, Patrik
LU
- organization
- publishing date
- 2018-11-02
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Achromatopsia, CNGA3 variant, cone dysfunction, electroretinogram, fundus autofluorescence, PDE6C variant
- in
- Ophthalmic Genetics
- volume
- 39
- issue
- 6
- pages
- 678 - 683
- publisher
- Taylor & Francis
- external identifiers
-
- scopus:85054521427
- pmid:30289319
- ISSN
- 1381-6810
- DOI
- 10.1080/13816810.2018.1522653
- language
- English
- LU publication?
- yes
- id
- d88aa504-58be-47ad-9984-c0b7c81ebd4a
- date added to LUP
- 2018-11-13 13:26:30
- date last changed
- 2025-10-14 11:14:42
@article{d88aa504-58be-47ad-9984-c0b7c81ebd4a,
abstract = {{<p>Purpose: To report five novel genetic variants in seven unrelated consanguineous families with achromatopsia (ACHM). Methods: Patients were examined with multimodal retinal imaging and full-field electroretinography (ffERG). Genetic testing was conducted using next-generation sequencing (NGS). Results: Three novel homozygous variants were detected in CNGA3: a missense c.967G > C (p.Ala323Pro) variant was detected in exon 8 (one patient), a splice site variant c.101 + 1G > A in intron 2 (three patients), and a splice site variant c.395 + 1G > T in intron 4(one patient). Another two novel variants were found in PDE6C: a homozygous missense variant c.1899C > A (p.His633Gln) in exon 15 (one patient) and a homozygous splice site variant c.1072-1G > C in intron 7 (one patient). Mutation segregation assessment was possible in 3 of the 7 families. All patients had nonrecordable ffERG 30-Hz flicker responses, reduced single-flash cone responses but preserved rod responses. Patients presented with variable degrees of foveal outer retinal layer loss and variable patterns of foveal hyperautofluorescence. Conclusions: These novel variants expand the genotypes associated with ACHM and may help in future therapy development for ACHM.</p>}},
author = {{Abdelkader, Ehab and Brandau, Oliver and Bergmann, Carsten and AlSalamah, Nuha and Nowilaty, Sawsan and Schatz, Patrik}},
issn = {{1381-6810}},
keywords = {{Achromatopsia; CNGA3 variant; cone dysfunction; electroretinogram; fundus autofluorescence; PDE6C variant}},
language = {{eng}},
month = {{11}},
number = {{6}},
pages = {{678--683}},
publisher = {{Taylor & Francis}},
series = {{Ophthalmic Genetics}},
title = {{Novel causative variants in patients with achromatopsia}},
url = {{http://dx.doi.org/10.1080/13816810.2018.1522653}},
doi = {{10.1080/13816810.2018.1522653}},
volume = {{39}},
year = {{2018}},
}