Διατμηματικό / Διϊδρυτικό ΠΜΣ Μοριακή Ιατρική
Library of the School of Health Sciences

2016-03-23

2016

Κόκκινου Βασιλική

Νικόλαος Π. Ανάγνου, Καθηγητής

Καταγραφή μεταλλάξεων σε Έλληνες ασθενείς με την κληρονομική αμφιβληστροειδοπάθεια νόσο του Stargardt

Greek

The main target of this study is to identify the second mutation in 14 Greek
patients with Stargardt disease (OMIM 248200). Stargardt is an inherited form
of juvenile macular degeneration, inherited in an autosomal recessive pattern,
which means both copies of the gene in each cell have mutations. Only one
pathogenic mutation was identified in these 14 patients from previous study
(Kamakari et al, 2014) in the ABCA4 gene (OMIM 601691). In this study 11
patients were analyzed for all 50 exons and flanking intronic regions of the
ABCA4 gene, with priority to 22 exons. In case the second mutation was
identified, further analysis was not performed because the genetic cause had
been identified. In addition 7 spots were added in the analysis. These spots
include splice mutations (Braun et al, 2013). For the remaining 3 patients only
these 7 spots were analyzed. In 8 out of 14 patients the second pathogenic
mutation was identified (57,14%). Notably 3/8 mutations were novel (p.W12*,
IVS25+2T>C and p. Ser673Argfs*6).

ABCA4, Stargardt, Retinopathy, Mutation, Gene

No

0

Yes

91

68

File access is restricted only to the intranet of UoA.

https://pergamos.lib.uoa.gr/uoa/dl/object/1312168