scholarly journals Phenotype/genotype correlation in a case series of Stargardt’s patients identifies novel mutations in the ABCA4 gene

Eye ◽  
2013 ◽  
Vol 27 (11) ◽  
pp. 1316-1319 ◽  
Author(s):  
M Gemenetzi ◽  
A J Lotery
Keyword(s):  
Case Series ◽  
Novel Mutations ◽  
Abca4 Gene ◽  
Genotype Correlation

scholarly journals Corrigendum to “Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles”

2018 ◽  
Vol 2018 ◽  
pp. 1-1
Author(s):  
Smaragda Kamakari ◽  
Vassiliki Kokkinou ◽  
George Koutsodontis ◽  
Polixeni Stamatiou ◽  
Christoforos Giatzakis ◽  
...  
Keyword(s):  
Mutation Spectrum ◽  
Novel Mutations ◽  
Stargardt Disease ◽  
Disease Identification ◽  
Abca4 Gene

scholarly journals Sengers syndrome in Asian Indians – two novel mutations and variant phenotype-genotype correlation

2017 ◽  
Vol 2 (3-4) ◽  
pp. 157-164 ◽  
Author(s):  
Sangeeta Khatter ◽  
Ratna Dua Puri ◽  
Sunita Bijarnia-Mahay ◽  
Mridul Aggarwal ◽  
V.L. Ramprasad ◽  
...  
Keyword(s):  
Asian Indians ◽  
Novel Mutations ◽  
Variant Phenotype ◽  
Sengers Syndrome ◽  
Genotype Correlation

SURF1-associated leigh syndrome: A case series and novel mutations

2012 ◽  
Vol 33 (8) ◽  
pp. 1192-1200 ◽  
Author(s):  
Inn-Chi Lee ◽  
Ayman W. El-Hattab ◽  
Jing Wang ◽  
Fang-Yuan Li ◽  
Shao-Wen Weng ◽  
...  
Keyword(s):  
Case Series ◽  
Leigh Syndrome ◽  
Novel Mutations

scholarly journals Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China

2021 ◽  
Vol 12 ◽  
Author(s):  
Hui-ming Yan ◽  
Zhi-mei Liu ◽  
Bei Cao ◽  
Victor Wei Zhang ◽  
Yi-duo He ◽  
...  
Keyword(s):  
Mitochondrial Disease ◽  
Chinese Population ◽  
Novel Mutation ◽  
Case Series ◽  
Myocardial Damage ◽  
Compound Heterozygote ◽  
Novel Mutations ◽  
Mild Phenotype ◽  
Phenotypic Spectrum ◽  
Human Mitochondrial Genome

Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by mutations in GTPBP3 gene is a rare mitochondrial disease, and this disorder identified from the Chinese population has not been described thus far. Here, we report a case series of three patients with COXPD23 caused by GTPBP3 mutations, from a severe to a mild phenotype. The main clinical features of these patients include lactic acidosis, myocardial damage, and neurologic symptoms. Whole genome sequencing and targeted panels of candidate human mitochondrial genome revealed that patient 1 was a compound heterozygote with novel mutations c.413C > T (p. A138V) and c.509_510del (p. E170Gfs∗42) in GTPBP3. Patient 2 was a compound heterozygote with novel mutations c.544G > T (p. G182X) and c.785A > C (p.Q262P), while patient 3 was a compound heterozygote with a previously reported mutation c.424G > A (p.E142K) and novel mutation c.785A > C (p.Q262P). In conclusion, we first describe three Chinese individuals with COXPD23, and discuss the genotype-phenotype correlations of GTPBP3 mutations. Our findings provide novel information in the diagnosis and genetic counseling of patients with mitochondrial disease.

scholarly journals Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles

2018 ◽  
Vol 2018 ◽  
pp. 1-10 ◽  
Author(s):  
Kamakari Smaragda ◽  
Kokkinou Vassiliki ◽  
Koutsodontis George ◽  
Stamatiou Polixeni ◽  
Giatzakis Christoforos ◽  
...  
Keyword(s):  
Mutant Allele ◽  
Detection Rate ◽  
Direct Sequencing ◽  
Complete Characterization ◽  
Novel Mutations ◽  
Stargardt Disease ◽  
Pathogenic Variants ◽  
Disease Identification ◽  
Abca4 Gene ◽  
Combination Of Methods

Aim. To evaluate the frequency and pattern of disease-associated mutations of ABCA4 gene among Greek patients with presumed Stargardt disease (STGD1). Materials and Methods. A total of 59 patients were analyzed for ABCA4 mutations using the ABCR400 microarray and PCR-based sequencing of all coding exons and flanking intronic regions. MLPA analysis as well as sequencing of two regions in introns 30 and 36 reported earlier to harbor deep intronic disease-associated variants was used in 4 selected cases. Results. An overall detection rate of at least one mutant allele was achieved in 52 of the 59 patients (88.1%). Direct sequencing improved significantly the complete characterization rate, that is, identification of two mutations compared to the microarray analysis (93.1% versus 50%). In total, 40 distinct potentially disease-causing variants of the ABCA4 gene were detected, including six previously unreported potentially pathogenic variants. Among the disease-causing variants, in this cohort, the most frequent was c.5714+5G>A representing 16.1%, while p.Gly1961Glu and p.Leu541Pro represented 15.2% and 8.5%, respectively. Conclusions. By using a combination of methods, we completely molecularly diagnosed 48 of the 59 patients studied. In addition, we identified six previously unreported, potentially pathogenic ABCA4 mutations.

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