Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome

BMC Medical Genetics
Min XueShouling Li

Abstract

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease. Mutations in the forkhead box L2 (FOXL2) gene cause two types of BPES distinguished by the presence (type I) and absence (type II) of premature ovarian failure (POF). The purpose of this study was to identify possible mutations in FOXL2 in two Chinese families with BPES. Two large autosomal dominant Chinese BPES families were enrolled in this study. Genomic DNA was obtained from the leukocytes in peripheral venous blood. Four overlapping sets of primers were used to amplify the entire coding region and nearby intron sequences of the FOXL2 gene for mutations detection using polymerase chain reaction (PCR) and sequencing analyses. The sequencing results were analyzed using DNAstar software. All patients of the two families demonstrated typical features of BPES type II, including small palpebral fissures, ptosis, telecanthus, and epicanthus inversus without female infertility (POF). A novel FOXL2 heterozygous indel mutation c.675_690delinsT, including a 16-bp deletion and a 1-bp(T) insertion (p.Ala226_Ala230del), which would result in deletion of 5 alanine residues of a poly-alanine (poly-Ala) tract in the protein, was identified in a...Continue Reading

References

Jan 1, 1988·Journal of Medical Genetics·C Oley, M Baraitser
Mar 1, 1995·Human Molecular Genetics·K W SmallM A Pericak-Vance
Jun 1, 1996·Trends in Genetics : TIG·W Hanna-Rose, U Hansen
Aug 1, 2002·Molecular Human Reproduction·S E HarrisA N Shelling
Sep 26, 2002·Developmental Biology·Peter Carlsson, Margit Mahlapuu
Dec 10, 2002·Journal of Medical Genetics·J CocquetR A Veitia
Feb 5, 2003·American Journal of Medical Genetics. Part a·Siv FokstuenJean-Louis Blouin
Dec 20, 2003·Cytogenetic and Genome Research·J CocquetR A Veitia
Oct 13, 2005·Human Molecular Genetics·Lara MoumnéReiner A Veitia
Jul 15, 2006·Molecular Endocrinology·Buffy S EllsworthSally A Camper
Mar 16, 2007·Proceedings of the National Academy of Sciences of the United States of America·Frank BatistaReiner A Veitia
Aug 30, 2008·Human Mutation·Diane BeysenElfride De Baere
Jan 18, 2012·Hormone Research in Pædiatrics·Hannah Verdin, Elfride De Baere

❮ Previous
Next ❯

Citations

Oct 19, 2016·Annales de chirurgie plastique et esthétique·C JalouxN Degardin
Jun 20, 2018·Journal of Assisted Reproduction and Genetics·K J Juárez-Rendón, J E García-Ortiz

❮ Previous
Next ❯

Methods Mentioned

BETA
PCR
electrophoresis

Software Mentioned

PROVEAN SIFT PolyPhen - 2
Seqman
DNAstar
PROVEAN

Related Concepts

Related Feeds

Bioinformatics in Biomedicine

Bioinformatics in biomedicine incorporates computer science, biology, chemistry, medicine, mathematics and statistics. Discover the latest research on bioinformatics in biomedicine here.