J Pediatr Genet 2018; 07(02): 083-085
DOI: 10.1055/s-0037-1612592
Case Report
Georg Thieme Verlag KG Stuttgart · New York

A 2-Year-Old Child with Bilateral Ectopis Lentis and a Novel FBN1 Gene Variant Cys129Ser

Ahmed N. Mohammad
1   Department of Clinical Genomics, Mayo Clinic, Jacksonville, Florida, United States
2   Center for Individualized Medicine, Mayo Clinic, Jacksonville, Florida, United States
,
Paldeep S. Atwal
1   Department of Clinical Genomics, Mayo Clinic, Jacksonville, Florida, United States
2   Center for Individualized Medicine, Mayo Clinic, Jacksonville, Florida, United States
› Author Affiliations
Further Information

Publication History

25 October 2017

13 November 2017

Publication Date:
08 December 2017 (online)

Abstract

Marfan syndrome and dominant ectopia lentis are part of type 1 fibrillinopathies that are caused by FBN1 pathogenic variants. Making a diagnosis could be challenging due to the clinical overlap between these disorders. The revised Ghent criteria used for Marfan syndrome diagnosis helped in resolving some of the confusion, especially in younger children. We report on a case of bilateral ectopia lentis in a 2-year-old child with a normal echocardiogram. FBN1 sequencing revealed a novel likely pathogenic variant described as c.385T > A (p.Cys129Ser). The patient's father also has a history of bilateral ectopia lentis and his genetic analysis detected the same FBN1 variant as the proband.

Authors' Contributions

A.N.M. organized and prepared the manuscript for first draft.


P.S.A. is a medical geneticist who executed the project, designed and critically reviewed the manuscript.


 
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