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European Journal of Human Genetics :... Jun 2021Since a substantial difference in the prevalence of genetic causes of rod-cone dystrophy (RCD) was found among different populations, we conducted a systematic review of...
Since a substantial difference in the prevalence of genetic causes of rod-cone dystrophy (RCD) was found among different populations, we conducted a systematic review of the genetic findings associated with RCD in Arab countries. Of the 816 articles retrieved from PubMed, 31 studies conducted on 407 participants from 11 countries were reviewed. Next-generation sequencing (NGS) was the most commonly used technique (68%). Autosomal recessive pattern was the most common pattern of inheritance (97%) and half of the known genes associated with RCD (32/63) were identified. In the Kingdom of Saudi Arabia, in addition to RP1 (20%) and TULP1 (20%), gene defects in EYS (8%) and CRB1 (7%) were also prevalently mutated. In North Africa, the main gene defects were in MERTK (18%) and RLBP1 (18%). Considering all countries, RP1 and TULP1 remained the most prevalently mutated. Variants in TULP1, RP1, EYS, MERTK, and RLBP1 were the most prevalent, possibly because of founder effects. On the other hand, only ten Individuals were found to have dominant or X-linked RCD. This is the first time a catalog of RCD genetic variations has been established in subjects from the Arabi countries. Although the last decade has seen significant interest, expertise, and an increase in RCD scientific publication, much work needs to be conducted.
Topics: Carrier Proteins; Cone-Rod Dystrophies; Eye Proteins; Female; Gene Frequency; Genetic Heterogeneity; Genetic Testing; Humans; Male; Microtubule-Associated Proteins; Middle East; Mutation; c-Mer Tyrosine Kinase
PubMed: 33188265
DOI: 10.1038/s41431-020-00754-0 -
Biomarkers in Medicine Aug 2019To investigate the prevalence of variants in non-small-cell lung cancer (NSCLC) patients. Database of Pubmed, Embase, Medline and Cochrane Library were searched... (Meta-Analysis)
Meta-Analysis
To investigate the prevalence of variants in non-small-cell lung cancer (NSCLC) patients. Database of Pubmed, Embase, Medline and Cochrane Library were searched systematically to April 2018. A total of 39 articles including 1903 NSCLC patients with positive were recruited. The overall pooled prevalence for variant 1 to 3 was 81.84% (95% CI: 76.68-86.99%), ranging from 86.64% tested by RT-PCR to 70.85% tested by other methods (p = 0.00). Subgroup analysis showed that the pooled prevalences of variant 1, 2 and 3 were 40.38% (95% CI: 34.83-45.93%), 6.59% (95% CI: 4.27-8.91%) and 26.54% (95% CI: 20.89-32.2%), respectively. This present study provides the exact prevalence of rearrangement in different variants for NSCLC patients with positive.
Topics: Aged; Anaplastic Lymphoma Kinase; Carcinoma, Non-Small-Cell Lung; Female; Gene Rearrangement; Humans; Lung Neoplasms; Male; Middle Aged; Oncogene Proteins, Fusion
PubMed: 31432686
DOI: 10.2217/bmm-2018-0277 -
Frontiers in Bioscience (Landmark... Jan 2024Microtubule-associated protein tau () mutations are one of the main causes of genetic Frontotemporal dementia (FTD) and are characterised by high clinical heterogeneity....
BACKGROUND
Microtubule-associated protein tau () mutations are one of the main causes of genetic Frontotemporal dementia (FTD) and are characterised by high clinical heterogeneity. A behavioural variant of FTD is the principal phenotype, but other rarer phenotypes are described, mostly reported as single cases. In this review, we provide an overview of the clinical phenotypes associated with mutations in order to define their characteristics and explore genotype-phenotype correlations.
METHODS
We performed systematic bibliographic research on the Pubmed database, focusing on articles published between 1998 and 2022. We analysed the clinical phenotype of 177 patients carrying mutations, focusing on the rarest ones. We performed a narrative synthesis of the results.
RESULTS
Regarding language phenotypes, the most frequent were the non-fluent variant and the semantic variant of Primary Progressive Aphasia (nfvPPA, svPPA), approximately in the same proportion. Almost 20% of the whole group of patients present a clinical phenotype belonging to the corticobasal syndrome-progressive supranuclear palsy (CBS-PSP) spectrum. While no clear genotype-phenotype correlation could be identified, some mutations were associated with a specific phenotype, while others gave origin to multiple clinical pictures and mixed phenotypes.
CONCLUSIONS
A high clinical heterogeneity exists in FTD associated with mutations without a clear phenotype-genotype correlation in most cases. However, some characteristics can be helpful to drive genetic testing. Deep phenotyping of patients, together with functional studies of single mutations, particularly those associated with atypical phenotypes, are necessary to better understand the biological mechanisms underlying this clinical variability.
Topics: Humans; Frontotemporal Dementia; tau Proteins; Mutation; Genetic Association Studies; Phenotype
PubMed: 38287807
DOI: 10.31083/j.fbl2901012