scholarly journals Characterization of New Transcripts Enriched in the Mouse Retina and Identification of Candidate Retinal Disease Genes

2004 ◽  
Vol 45 (9) ◽  
pp. 3313 ◽  
Author(s):  
Julie Lord-Grignon ◽  
Nicolas Te´treault ◽  
Alan J. Mears ◽  
Anand Swaroop ◽  
Gilbert Bernier
Keyword(s):  
Retinal Disease ◽  
Mouse Retina ◽  
Disease Genes

scholarly journals Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ine Strubbe ◽  
Caroline Van Cauwenbergh ◽  
Julie De Zaeytijd ◽  
Sarah De Jaegere ◽  
Marieke De Bruyne ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Somatic Mosaicism ◽  
Retinal Disease ◽  
Hair Follicles ◽  
Disease Genes ◽  
Female Carrier ◽  
Autofluorescence Imaging ◽  
Targeted Next Generation Sequencing ◽  
Whole Exome ◽  
Next Generation Sequencing Ngs

AbstractWe describe both phenotype and pathogenesis in two male siblings with typical retinitis pigmentosa (RP) and the potentially X-linked RP (XLRP) carrier phenotype in their mother. Two affected sons, two unaffected daughters, and their mother underwent detailed ophthalmological assessments including Goldmann perimetry, color vision testing, multimodal imaging and ISCEV-standard electroretinography. Genetic testing consisted of targeted next-generation sequencing (NGS) of known XLRP genes and whole exome sequencing (WES) of known inherited retinal disease genes (RetNet-WES). Variant validation and segregation analysis were performed by Sanger sequencing. The mutational load of the RHO variant in the mother was assessed in DNA from leucocytes, buccal cells and hair follicles using targeted NGS. Both affected sons showed signs of classical RP, while the mother displayed patches of hyperautofluorescence on blue light autofluorescence imaging and regional, intraretinal, spicular pigmentation, reminiscent of a carrier phenotype of XLRP. XLRP testing was negative. RetNet-WES testing revealed RHO variant c.404G > C p.(Arg135Pro) in a mosaic state (21% of the reads) in the mother and in a heterozygous state in both sons. Targeted NGQSS of the RHO variant in different maternal tissues showed a mutation load between 25.06% and 41.72%. We report for the first time that somatic mosaicism of RHO variant c.404G > C p.(Arg135Pro) mimics the phenotype of a female carrier of XLRP, in combination with heterozygosity for the variant in the two affected sons.

scholarly journals Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population

Genes ◽  
2020 ◽  
Vol 11 (11) ◽  
pp. 1237
Author(s):  
Anna Morgan ◽  
Stefania Lenarduzzi ◽  
Beatrice Spedicati ◽  
Elisabetta Cattaruzzi ◽  
Flora Maria Murru ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Disease Genes ◽  
Italian Population ◽  
Essential Information ◽  
Whole Exome ◽  
Relevant Role ◽  
Multiplex Ligation Probe Amplification ◽  
Syndromic Hearing Loss

Hearing loss (HL), both syndromic (SHL) and non-syndromic (NSHL), is the most common sensory disorder, affecting ~460 million people worldwide. More than 50% of the congenital/childhood cases are attributable to genetic causes, highlighting the importance of genetic testing in this class of disorders. Here we applied a multi-step strategy for the molecular diagnosis of HL in 125 patients, which included: (1) an accurate clinical evaluation, (2) the analysis of GJB2, GJB6, and MT-RNR1 genes, (3) the evaluation STRC-CATSPER2 and OTOA deletions via Multiplex Ligation Probe Amplification (MLPA), (4) Whole Exome Sequencing (WES) in patients negative to steps 2 and 3. Our approach led to the characterization of 50% of the NSHL cases, confirming both the relevant role of the GJB2 (20% of cases) and STRC deletions (6% of cases), and the high genetic heterogeneity of NSHL. Moreover, due to the genetic findings, 4% of apparent NSHL patients have been re-diagnosed as SHL. Finally, WES characterized 86% of SHL patients, supporting the role of already know disease-genes. Overall, our approach proved to be efficient in identifying the molecular cause of HL, providing essential information for the patients’ future management.

scholarly journals Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease

Genetics ◽  
2018 ◽  
Vol 211 (2) ◽  
pp. 597-615 ◽  
Author(s):  
Benjamin M. Scott ◽  
Steven K. Chen ◽  
Nihar Bhattacharyya ◽  
Abdiwahab Y. Moalim ◽  
Sergey V. Plotnikov ◽  
...  
Keyword(s):  
Signaling Pathway ◽  
Retinal Disease

scholarly journals Phenotypic and functional characterization of Bst+/- mouse retina

2015 ◽  
Vol 8 (8) ◽  
pp. 969-976 ◽  
Author(s):  
H. Riazifar ◽  
G. Sun ◽  
X. Wang ◽  
A. Rupp ◽  
S. Vemaraju ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Mouse Retina

scholarly journals Characterization of Retinal Disease Progression in a 1-Year Longitudinal Study of Eyes With Mild Nonproliferative Retinopathy in Diabetes Type 2

2015 ◽  
Vol 56 (9) ◽  
pp. 5698 ◽  
Author(s):  
Luisa Ribeiro ◽  
Francesco Bandello ◽  
Amparo Navea Tejerina ◽  
Stela Vujosevic ◽  
Monica Varano ◽  
...  
Keyword(s):  
Longitudinal Study ◽  
Disease Progression ◽  
Retinal Disease ◽  
Diabetes Type 2 ◽  
Diabetes Type

scholarly journals Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies

2020 ◽  
Vol 21 (2) ◽  
pp. 516 ◽  
Author(s):  
Lisa Gianesello ◽  
Monica Ceol ◽  
Loris Bertoldi ◽  
Liliana Terrin ◽  
Giovanna Priante ◽  
...  
Keyword(s):  
Dent Disease ◽  
Low Molecular Weight ◽  
Disease Genes ◽  
Loss Of Function ◽  
Clcn5 Gene ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Low Molecular Weight Proteins ◽  
Clcn5 Mutations

Dent disease (DD), an X-linked renal tubulopathy, is mainly caused by loss-of-function mutations in CLCN5 (DD1) and OCRL genes. CLCN5 encodes the ClC-5 antiporter that in proximal tubules (PT) participates in the receptor-mediated endocytosis of low molecular weight proteins. Few studies have analyzed the PT expression of ClC-5 and of megalin and cubilin receptors in DD1 kidney biopsies. About 25% of DD cases lack mutations in either CLCN5 or OCRL genes (DD3), and no other disease genes have been discovered so far. Sanger sequencing was used for CLCN5 gene analysis in 158 unrelated males clinically suspected of having DD. The tubular expression of ClC-5, megalin, and cubilin was assessed by immunolabeling in 10 DD1 kidney biopsies. Whole exome sequencing (WES) was performed in eight DD3 patients. Twenty-three novel CLCN5 mutations were identified. ClC-5, megalin, and cubilin were significantly lower in DD1 than in control biopsies. The tubular expression of ClC-5 when detected was irrespective of the type of mutation. In four DD3 patients, WES revealed 12 potentially pathogenic variants in three novel genes (SLC17A1, SLC9A3, and PDZK1), and in three genes known to be associated with monogenic forms of renal proximal tubulopathies (SLC3A, LRP2, and CUBN). The supposed third Dent disease-causing gene was not discovered.

scholarly journals Isolation and characterization of the Drosophila ubiquilin ortholog dUbqln: in vivo interaction with early-onset Alzheimer disease genes

2007 ◽  
Vol 16 (21) ◽  
pp. 2626-2639 ◽  
Author(s):  
A. Li ◽  
Z. Xie ◽  
Y. Dong ◽  
K. M. McKay ◽  
M. L. McKee ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Early Onset ◽  
Disease Genes ◽  
Isolation And Characterization
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