ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation

Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing

“…We searched all these nine mutation in the literature and found five novels and four previously reported. Among these four reported mutations, p.A1773V in ABCA4 was reported as one of the founder mutations (up to17%) in Latin American population [18]; p.R2038W mutation in USA, Estonia and South African population; p.R602W mutation in USA, South African population [2], [3], [19]; G607R in the German population[20]. Taken together, this study confirmed that these four mutations are pathogenic mutations and among these four reported mutations, p.A1773V, p.R2038W and p.R602W may have higher allele frequencies since they were frequently reported in different populations.…”

Screening ofABCA4Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations

“…16 In Mexican patients, p.A1773V and p.G818E were identified in 17% and 15%, respectively, of the total mutant alleles. 18 A recent study reported that mutation p.R2107H was the most frequent mutation in patients of African American origin, with an allele frequency of 19.32%, which was much higher than the frequency of 1.02% observed in patients of European origin. 17 Some common variants are founder mutations; for instance, p.R1129L in Spanish patients, 16 p.A1773V in Mexican patients, 18 and p.N965S in the Danish population.…”

“…However, several reported common mutations can typically be ethnic specific, with allele frequencies between 10 % and 20%. 6,9,10,[16][17][18] In patients of European ancestry, the most frequent mutation is p.G1961E, which has a highest allele frequency of 20.5%. 6 In Spanish patients, the allele frequency of the most prevalent iovs.arvojournals.org j ISSN: 1552-5783 p.R1129L allele is 22.4%.…”

Stargardt disease-associated mutation spectrum of a Russian Federation cohort

“…Although genetic variations associated with STGD1 and other ABCA4-related retinopathies are reported for Chinese (Zhou et al 2014), British , Japanese (Fukui et al 2002), Indian (Battu et al 2015), German (Rivera et al 2000), Spanish (Paloma et al 2001), Hungarian (Hargitai et al 2005), Portuguese ), Danish , Italian , Turkish (Ozgul et al 2004), Mexican (Chacon-Camacho et al 2013),…”