scholarly journals Novel mutations in of the ABCR gene in italian patients with Stargardt disease

Eye ◽  
2009 ◽  
Vol 24 (1) ◽  
pp. 158-164 ◽  
Author(s):  
I Passerini ◽  
A Sodi ◽  
B Giambene ◽  
A Mariottini ◽  
U Menchini ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Stargardt Disease

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 Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family

2013 ◽  
Vol 21 (11) ◽  
pp. 1266-1271 ◽  
Author(s):  
Frida Jonsson ◽  
Marie S Burstedt ◽  
Ola Sandgren ◽  
Anna Norberg ◽  
Irina Golovleva
Keyword(s):  
Novel Mutations ◽  
Stargardt Disease ◽  
Leber Congenital Amaurosis ◽  
Swedish Family

Complete Exon–Intron Structure of the Retina-Specific ATP Binding Transporter Gene (ABCR) Allows the Identification of Novel Mutations Underlying Stargardt Disease

Genomics ◽  
1998 ◽  
Vol 48 (1) ◽  
pp. 139-142 ◽  
Author(s):  
S. Gerber ◽  
J.M. Rozet ◽  
T.J.R. van de Pol ◽  
C.B. Hoyng ◽  
A. Munnich ◽  
...  
Keyword(s):  
Atp Binding ◽  
Transporter Gene ◽  
Novel Mutations ◽  
Stargardt Disease ◽  
Intron Structure

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.

Two novel mutations of RUNX2 gene in two sporadic cleidocranial dysplasia patients

2016 ◽  
Author(s):  
Cong Zhang ◽  
Yan Jiang ◽  
Xiaoping Xing ◽  
Mei Li ◽  
Ou Wang ◽  
...  
Keyword(s):  
Cleidocranial Dysplasia ◽  
Novel Mutations
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