alexa Genetic Analysis of a Family with a Novel Type I Fibrillinopathy | OMICS International
ISSN: 2155-9570

Journal of Clinical & Experimental Ophthalmology
Open Access

Like us on:
OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations

700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

Research Article

Genetic Analysis of a Family with a Novel Type I Fibrillinopathy

James A Eadie1*, John C Hart Jr2 and Les I Siegel3
1University of Wisconsin, Department of Ophthalmology, Madison WI, USA
2William Beaumont Hospital, Department of Ophthalmology, Royal Oak MI, USA
3Glaucoma Center of Michigan, Southfield MI, USA
Corresponding Author : James A Eadie, MD
Fellow-Retinal Surgery
Department of Ophthalmology
University of Wisconsin
2880 University Ave, Madison, WI 53705, USA
E-mail: [email protected]
Received December 10, 2012; Accepted January 07, 2013; Published January 14, 2013
Citation: Eadie JA, Hart JC Jr, Siegel LI (2013) Genetic Analysis of a Family with a Novel Type I Fibrillinopathy. J Clin Exp Ophthalmol 4:261. doi:10.4172/2155-9570.1000261
Copyright: © 2013 Eadie JA, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Related article at
DownloadPubmedDownloadScholar Google

Abstract

Background: This study describes a novel polymorphism in the Fibrillin gene (FBN1) and the associated unique Type I Fibrillinopathy phonotypic variant found in a single family. Clinical data were taken at a single academic institution while blood samples were sent for commercially available sequencing.

Methods: The proband of the study was referred to the authors with ectopia lentis (EL). A careful family history revealed several other family members with zonular instability detected at the time of cataract surgery. A thorough workup for known causes of EL uncovered a novel polymorphism in the FBN1 gene. A pedigree was devised and, medical records and genetic testing was obtained on eight additional family members. Retrospective analysis of clinical information and family history data were combined with prospective genetic analysis of the available cohort family members.

Results: The novel misprint mutation c.730T>C in the FBN1 gene was detected in all three family members with confirmed EL at the time of cataract surgery. In addition, this misprint was detected in 3 of 6 offspring of known carriers who had not yet undergone cataract surgery.

Conclusions: In our analysis of this single family we describe a novel Type I Fibrillinopathy. This phenotypic presentation is unique in that the zonular insufficiency in this family does not manifest until the time of cataract surgery. The presence of this disease entity provides a possible explanation for idiopathic zonular weakness encountered in what is expected to be routine ocular surgery.

Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

Agri & Aquaculture Journals

Dr. Krish

[email protected]

1-702-714-7001Extn: 9040

Biochemistry Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Business & Management Journals

Ronald

[email protected]

1-702-714-7001Extn: 9042

Chemistry Journals

Gabriel Shaw

[email protected]

1-702-714-7001Extn: 9040

Clinical Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Engineering Journals

James Franklin

[email protected]

1-702-714-7001Extn: 9042

Food & Nutrition Journals

Katie Wilson

[email protected]

1-702-714-7001Extn: 9042

General Science

Andrea Jason

[email protected]

1-702-714-7001Extn: 9043

Genetics & Molecular Biology Journals

Anna Melissa

[email protected]

1-702-714-7001Extn: 9006

Immunology & Microbiology Journals

David Gorantl

[email protected]

1-702-714-7001Extn: 9014

Materials Science Journals

Rachle Green

[email protected]

1-702-714-7001Extn: 9039

Nursing & Health Care Journals

Stephanie Skinner

[email protected]

1-702-714-7001Extn: 9039

Medical Journals

Nimmi Anna

[email protected]

1-702-714-7001Extn: 9038

Neuroscience & Psychology Journals

Nathan T

[email protected]

1-702-714-7001Extn: 9041

Pharmaceutical Sciences Journals

Ann Jose

[email protected]

1-702-714-7001Extn: 9007

Social & Political Science Journals

Steve Harry

[email protected]

1-702-714-7001Extn: 9042

 
© 2008- 2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version