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Carrier of R14W in ...
Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1
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- Köhn, Linda, 1979- (författare)
- Umeå universitet,Medicinsk och klinisk genetik
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- Burstedt, Marie SI (författare)
- Umeå universitet,Oftalmiatrik
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- Jonsson, Frida (författare)
- Umeå universitet,Medicinsk och klinisk genetik
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- Kadzhaev, Konstantin (författare)
- Umeå universitet,Medicinsk och klinisk genetik
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- Haamer, Eneli (författare)
- Asper Biotech, Tartu, Estonia
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- Sandgren, Ola (författare)
- Umeå universitet,Oftalmiatrik
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- Golovleva, Irina (författare)
- Umeå universitet,Medicinsk och klinisk genetik
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(creator_code:org_t)
- Association for Research in Vision and Ophthalmology, 2008
- 2008
- Engelska.
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Ingår i: Investigative Ophthalmology and Visual Science. - : Association for Research in Vision and Ophthalmology. - 0146-0404 .- 1552-5783. ; 49:7, s. 3172-3177
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Purpose: Bothnia dystrophy (BD) is an autosomal recessive retinitis pigmentosa (arRP) associated with the c.700C>T mutation in the RLBP1 gene. Testing of patients with BD has revealed the c.700C>T mutation on one or both alleles. The purpose of this study was to elucidate the underlying genetic mechanisms along with a clinical evaluation of the heterozygous patients with BD.Methods: Patients with BD heterozygous for the RLBP1 c.700C>T were tested for 848 mutations by arrayed primer-extension technology. Further mutation detection was performed by PCR-restriction fragment length polymorphism (RFLP), sequencing, denaturing (d)HLPC and allelic discrimination. The ophthalmic examinations were performed in all c.700C>T heterozygotes.Results: The clinical findings in 10 BD heterozygotes were similar to those in the homozygotes. The presence of a second mutation, c.677T>A, corresponding to p.M226K was detected in all 10 cases. Segregation analysis showed that the mutations were allelic, and the patients were compound heterozygotes [c.677T>A]+[c.700C>T]. One of those patients was also a carrier of the c.40C>T corresponding to the p.R14W change in carbonic anhydrase IV (CAIV) associated with autosomal dominant RP, RP17. His mother, a carrier of the identical change was declared healthy after ophthalmic examination. This sequence variant was found in 6 of 143 tested blood donors.Conclusions: The high frequency of arRP in northern Sweden is due to two mutations in the RLBP1 gene: c.677T>A and c.700C>T. BD is caused by the loss of CRALBP function due to changed physical features and impaired activity of retinoid binding. The CAIV p.R14W sequence variant found in one of the patients with a BD phenotype is a benign polymorphism in a population of northern Sweden.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oftalmologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Ophthalmology (hsv//eng)
Nyckelord
- Adolescent
- Adult
- Aged
- Aged; 80 and over
- Alleles
- Amino Acid Substitution
- Arginine
- Carbonic Anhydrase IV/*genetics
- Carrier Proteins/*genetics
- Child
- Cytosine
- Female
- Fundus Oculi
- Genes; Recessive
- Heterozygote
- Homozygote
- Humans
- Male
- Middle Aged
- Mutation
- Phenotype
- Retinitis Pigmentosa/*genetics/pathology/physiopathology
- Thymine
- Tryptophan
- Medical genetics
- Medicinsk genetik
- Ophtalmology
- Oftalmologi
- Ophtalmology
- oftalmiatrik
- genetik
- Genetics
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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