The clinical effect of homozygous ABCA4 alleles in 18 patients.

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OBJECTIVE
To illustrate the phenotypic presentation of a group of individuals with the homozygous variant ABCA4 related diseases.


METHOD
retrospective case series.

METHOD
Eighteen of the affected individuals from 13 families ascertained from the total cohort of 214 families with retinal diseases associated ABCA4 presenting to a single center.


METHOD
A detailed history was obtained, and color fundus photography, autofluorescence (AF) imaging, optical coherence tomography (OCT), and electrophysiologic assessment is done. Phenotype by ophthalmoscopy, AF, and electrophysiology are assigned using the characteristics previously reported. ABCA4 mutation detection is done using microarray ABCR400 (Asper Biotech, Tartu, Estonia) and high-throughput DNA sequencing, with direct sequencing used to assess segregation.


METHOD
Detailed clinical, electrophysiological and molecular genetic findings.


RESULTS
Eleven ABCA4 homozygous alleles related diseases were identified, including one shift frame, two stops, first intronic splice-site variants lead changes, two missense variants of the complex, and 5 of the missense variants: p.Glu905fsX916, p.Arg1300X, p.Gln2220X, c 0, 4253 + 4 C> T, p.Leu541Pro and p.Ala1038Val (homozygosity for allele complex), p.Val931Met and p.Arg1705Gln (complex alleles), p.Arg212Cys, p.Cys1488Arg, p.Arg1640Trp, p.Gly1961Glu, and p.Leu2027Phe. Eight of the 11 allele homozygotes have not been reported previously. Six of 7 patients with homozygous null allele had early-onset (<10 years) disease, with all seven had severe phenotype.

Two patients with homozygous missense variant (p.Leu541Pro and p.Ala1038Val [complex], and p.Arg1640Trp) served with a severe phenotype. Three patients with homozygous p.Gly1961Glu have adult-onset disease and mild phenotype. One patient with homozygous p.Leu2027Phe show fovea spared and preserved visual acuity.


CONCLUSION
Phenotype is represented in patients identified as homozygous for the variant considered ABCA4 related disease provides insight into the effects of individual alleles. Null alleles have functional effects are severe, and certain missense variant similar to nulls, suggesting a complete retraction of protein function. Common alleles were identified, p.Gly1961Glu and p. Leu2027Phe, both have structural and functional effects of light on the retina adults; the latter is associated with a relatively fixed photoreceptor architecture and function in the fovea.

The clinical effect of homozygous ABCA4 alleles in 18 patients.
The clinical effect of homozygous ABCA4 alleles in 18 patients.

whole genome association studies for multigenic diseases: ethical dilemmas arising from commercialization – the case of genetic testing for autism.

This paper discusses some of the ethical issues that arise from whole genome association studies for multigenic diseases, with a focus on cases of autism. Events that occurred after the announcement of a genetic test for autism in France (2005-2009) described for example ethical controversy that can arise when a genetic test for autism is applied prematurely and inappropriately promoted by biotech companies.

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Description: N/A

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7763-5 each
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30R-2875 5 ug
EUR 425
Description: Purified recombinant Human p38 beta protein

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AF6323-100ul 100ul
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AF6323-200ul 200ul
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YF-PA15507 50 ug
EUR 435.6
Description: Mouse polyclonal to AIMP2/p38

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R31526 100 ug
EUR 356.15
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20-abx012798
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  • 10 ug
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p38 MAPK Antibody
20-abx012875
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  • 10 ug
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p38 MAPK antibody
10R-8422 100 ul
EUR 471.6
Description: Mouse monoclonal p38 MAPK antibody

The authors suggest that the genetic tests assess one or several genes involved in the disorder multigenic only be useful if: (1) genetic association found in scientific studies to be statistically convincing, reproducible and also applies to populations of individuals deemed to belong (validity scientific); (2) The relative risk is given by the ‘high risk’ alleles should be high enough to be significant to the patient (significant impact); (3) the use of the test should lead to some improvement of outcomes for patients, the results of treatment adjusted if available, or at least from lifestyle adjustments (or destiny) requested by the new knowledge generated (clinical utility).

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