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Article

Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients.

Human mutation - 1 Aug 2008

Nallathambi Jeyabalan, Laissue Paul, Batista Frank, Benayoun Bérénice A, Lesaffre Corinne, Moumné Lara, Pandaranayaka Pj Eswari, Usha Kim, Krishnaswamy Sankaran, Sundaresan Periasamy, Veitia Reiner A

Abstract excerpt

Mutations of the transcription factor FOXL2, involved in cranio-facial and ovarian development lead to the Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) in human. Here, we describe nine mutations in the open reading frame of FOXL2. Six of them are novel: c.292T>A (p.Trp98Arg), c.323T>C (p.Leu108Pro), c.650C>G (p.Ser217Cys) and three frameshifts. We have performed localization and functional studies...

Topics

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Blepharophimosis
Chlorocebus aethiops
COS Cells
Forkhead Box Protein L2
Forkhead Transcription Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Frameshift Mutation

Primary Ovarian Insufficiency

Protein Structure, Tertiary

Source

Identifiers

PMID: 18484667
DOI: 10.1002/humu.20809

Genes

FOXL2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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