Background: To characterize the phenotype and genotype of posterior microphthalmos rare syndrome associating (PM), retinitis pigmentosa (RP), and foveoschisis in Spanish family relatives. Methods: The study included five members of the family, which consists of three brothers and their parents.
All members undergo a comprehensive eye exam to best corrected visual acuity, axial length and refractive error, electroretinography (ERG), fundus photography, fluorescein retinal angiography (FA) and optical coherence tomography (OCT). Clinical exome sequencing of more than 6,000 clinically relevant gene (Focus SureSelect exome, Agilent) was performed using Illumina HiSeq 3000 system. variants candidates have been validated and are separated by Sanger sequencing.
Results: The affected siblings have bilateral shortening of the posterior ocular segment and the normal dimensions of the anterior segment. funduskopi, results of ERG, and the FA are compatible with the RP. October macular analysis revealed schisis from outer retinal layers. pipeline data analysis we identified a homozygous frameshift mutation in exon 5 of the membrane frizzled-related protein (MFRP) gene (c.498delC; p.Asn167Thrfs * 25).
Conclusion: Our study confirmed the association of PM with RP as an autosomal recessive syndrome. Although it has previously been described, there seems to be some constant (ie, PM and RP) and some variable features (ie, optic nerve drusen and foveoschisis).
The MFRP mutation has also been detected in other studies linking PM with RP. Analysis of a larger series of cases in clinical and genetic level will certainly help us to better understand the phenotype-genotype correlation of this syndrome. To evaluate the ophthalmological and molecular findings in eight patients with a clinical diagnosis of neurofibromatosis type 2 (NF2). New pathological mutation described and variability in phenotype eyes and NF2 allele heterogeneity discussed.
Eye examination carried out in eight NF2 patients, and it includes measurement of visual acuity, biomicroscopy, dilated fundus examination, fundus color photography, infrared photography, and spectral domain optical coherence tomography (SD-OCT). Molecular analysis by whole-exome sequencing performed using DNA derived from mononuclear cells of peripheral blood from each individual.
Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study.
Novel mutations in the homozygous splicing ARL2BP cause autosomal recessive retinitis pigmentosa.
Mutations in ARL2BP, encoding ADP-ribosylation factor-like 2 protein binding, was recently implicated as a cause of autosomal recessive retinitis pigmentosa (ARRP), with three variants of homozygous identified to date. In this study, we did a generation sequencing to reveal additional ARRP cases associated with the variant ARL2BP.
Whole-genome sequencing (WGS) or whole exome sequencing (WES) conducted in 1,051 unrelated individuals were recruited for the Consortium of British heritage-retinal diseases and NIHR Bioresource Rare Diseases study research.
Sanger sequencing is used to validate next-generation sequencing data, and analysis of reverse transcriptase (RT) PCR performed on RNA extracted from blood of affected individuals to test for the connection of the change ARL2BP. Detailed phenotyping carried out, including clinical evaluation, electroretinography, fundus photography, fundus autofluorescence imaging, and spectral-domain optical coherence tomography.
Description: A competitive inhibition quantitative ELISA assay kit for detection of Bovine Parathyroid Hormone (PTH) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Description: A competitive inhibition quantitative ELISA assay kit for detection of Bovine Parathyroid Hormone (PTH) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Description: A competitive inhibition quantitative ELISA assay kit for detection of Canine Parathyroid Hormone (PTH) in samples from serum, plasma or other biological fluids.
Description: A competitive inhibition quantitative ELISA assay kit for detection of Canine Parathyroid Hormone (PTH) in samples from serum, plasma or other biological fluids.
Description: A competitive inhibition quantitative ELISA assay kit for detection of Human Parathyroid Hormone (PTH) in samples from serum, plasma or other biological fluids.
Description: A competitive inhibition quantitative ELISA assay kit for detection of Human Parathyroid Hormone (PTH) in samples from serum, plasma or other biological fluids.
Description: A competitive inhibition quantitative ELISA assay kit for detection of Mouse Parathyroid Hormone (PTH) in samples from serum, plasma or other biological fluids.
Description: A competitive inhibition quantitative ELISA assay kit for detection of Mouse Parathyroid Hormone (PTH) in samples from serum, plasma or other biological fluids.
Description: A competitive inhibition quantitative ELISA assay kit for detection of Porcine Parathyroid Hormone (PTH) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Description: A competitive inhibition quantitative ELISA assay kit for detection of Porcine Parathyroid Hormone (PTH) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Description: A competitive inhibition quantitative ELISA assay kit for detection of Rat Parathyroid Hormone (PTH) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Description: A competitive inhibition quantitative ELISA assay kit for detection of Rat Parathyroid Hormone (PTH) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates or other biological fluids.
Description: A polyclonal antibody against PTH. Recognizes PTH from Human. This antibody is Unconjugated. Tested in the following application: ELISA, IHC; Recommended dilution: IHC:1:500-1:1000
Description: A polyclonal antibody against PTH. Recognizes PTH from Human. This antibody is Unconjugated. Tested in the following application: ELISA, IHC; Recommended dilution: IHC:1:20-1:200
Description: A polyclonal antibody against pth. Recognizes pth from Escherichia coli. This antibody is Unconjugated. Tested in the following application: ELISA
Description: A polyclonal antibody against PTH. Recognizes PTH from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against PTH. Recognizes PTH from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:3000
Description: A polyclonal antibody against PTH. Recognizes PTH from Human. This antibody is Unconjugated. Tested in the following application: ELISA, WB
Description: A polyclonal antibody against PTH. Recognizes PTH from Human. This antibody is Unconjugated. Tested in the following application: WB, ELISA;WB:1/500-1/2000.ELISA:1/10000
homozygous variant in ARL2BP (NM_012106.3) was identified in two unrelated individuals with RP. Varian, c.207 + 1G> A and c.390 + 5G> A, in the donor splice site of intron conserved intron 3 and 5, respectively, are expected to alter pre-mRNA splicing of ARL2BP. RT-PCR that include introns are exposed to reveal that the two variants is due to abnormal splicing ARL2BP in samples from affected individuals.
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