Clinical and genetic characteristics of Russian Marfan patients

Clinical and genetic characteristics of Russian Marfan patients The results of direct DNA diagnostics in nine patients with Marfan syndrome, aged from two to 52 years old, and four unhealthy relatives with the same disease from two unrelated families have been presented for the first time in Russia. Eight mutations in the gene FBN1 were revealed. One patient demonstrated a substitution with unknown clinical importance, which was previously described in the SNP database as rs112287730 with a frequency of incidence of 0.1%. Out of the eight mutations, two (25%) were previously described, and the other six mutations (75%) were revealed for the first time. These mutations revealed by us were of the following types: three mutations (37.5%) produced a shift in the open reading frame (two deletions and one insertion), three mutations (37.5%) involved a splicing site, and one (12.5%) nonsense mutation was also noted. Our data contradict previous reports that claimed that the majority of mutations in the FBN1 gene represented missense mutations. Such inconsistency could result from a small size of the examined sample or from substitutions that produced alteration in the splicing site (as we have demonstrated here). The distribution of the revealed mutations was uniform along the whole gene. The results of the conducted comparative analysis of genetic and phenotypic indices was in complete agreement with previously reported results. The developed direct method of DNA diagnostics was fully informative, as we managed in all nine examined patients to confirm their clinical diagnosis using a molecular and genetic approach. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Russian Journal of Genetics Springer Journals

Clinical and genetic characteristics of Russian Marfan patients

Loading next page...
 
/lp/springer_journal/clinical-and-genetic-characteristics-of-russian-marfan-patients-GTa0pZnUGI
Publisher
Pleiades Publishing
Copyright
Copyright © 2015 by Pleiades Publishing, Inc.
Subject
Biomedicine; Human Genetics; Animal Genetics and Genomics; Microbial Genetics and Genomics
ISSN
1022-7954
eISSN
1608-3369
D.O.I.
10.1134/S102279541507011X
Publisher site
See Article on Publisher Site

Abstract

The results of direct DNA diagnostics in nine patients with Marfan syndrome, aged from two to 52 years old, and four unhealthy relatives with the same disease from two unrelated families have been presented for the first time in Russia. Eight mutations in the gene FBN1 were revealed. One patient demonstrated a substitution with unknown clinical importance, which was previously described in the SNP database as rs112287730 with a frequency of incidence of 0.1%. Out of the eight mutations, two (25%) were previously described, and the other six mutations (75%) were revealed for the first time. These mutations revealed by us were of the following types: three mutations (37.5%) produced a shift in the open reading frame (two deletions and one insertion), three mutations (37.5%) involved a splicing site, and one (12.5%) nonsense mutation was also noted. Our data contradict previous reports that claimed that the majority of mutations in the FBN1 gene represented missense mutations. Such inconsistency could result from a small size of the examined sample or from substitutions that produced alteration in the splicing site (as we have demonstrated here). The distribution of the revealed mutations was uniform along the whole gene. The results of the conducted comparative analysis of genetic and phenotypic indices was in complete agreement with previously reported results. The developed direct method of DNA diagnostics was fully informative, as we managed in all nine examined patients to confirm their clinical diagnosis using a molecular and genetic approach.

Journal

Russian Journal of GeneticsSpringer Journals

Published: Jul 25, 2015

References

You’re reading a free preview. Subscribe to read the entire article.


DeepDyve is your
personal research library

It’s your single place to instantly
discover and read the research
that matters to you.

Enjoy affordable access to
over 18 million articles from more than
15,000 peer-reviewed journals.

All for just $49/month

Explore the DeepDyve Library

Search

Query the DeepDyve database, plus search all of PubMed and Google Scholar seamlessly

Organize

Save any article or search result from DeepDyve, PubMed, and Google Scholar... all in one place.

Access

Get unlimited, online access to over 18 million full-text articles from more than 15,000 scientific journals.

Your journals are on DeepDyve

Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.

All the latest content is available, no embargo periods.

See the journals in your area

DeepDyve

Freelancer

DeepDyve

Pro

Price

FREE

$49/month
$360/year

Save searches from
Google Scholar,
PubMed

Create lists to
organize your research

Export lists, citations

Read DeepDyve articles

Abstract access only

Unlimited access to over
18 million full-text articles

Print

20 pages / month

PDF Discount

20% off