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Novel causative var...
Novel causative variants in patients with achromatopsia
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- Abdelkader, Ehab (författare)
- Royal Alexandra Hospital, Paisley,Menoufia University
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- Brandau, Oliver (författare)
- Bioscientia Institut für Medizinische Diagnostik GmbH
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- Bergmann, Carsten (författare)
- Bioscientia Institut für Medizinische Diagnostik GmbH
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- AlSalamah, Nuha (författare)
- King Saud Medical City
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- Nowilaty, Sawsan (författare)
- King Khaled Eye Specialist Hospital
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- Schatz, Patrik (författare)
- Lund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital,King Khaled Eye Specialist Hospital
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(creator_code:org_t)
- 2018-10-05
- 2018
- Engelska.
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Ingår i: Ophthalmic Genetics. - : Informa UK Limited. - 1381-6810 .- 1744-5094. ; 39:6, s. 678-683
- Relaterad länk:
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oftalmologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Ophthalmology (hsv//eng)
Nyckelord
- Achromatopsia
- CNGA3 variant
- cone dysfunction
- electroretinogram
- fundus autofluorescence
- PDE6C variant
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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