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Article

A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.

Human genetics - 1 Mar 2007

Nallathambi Jeyabalan, Moumné Lara, De Baere Elfride, Beysen Diane, Usha Kim, Sundaresan Periasamy, Veitia Reiner A

Abstract excerpt

The blepharophimosis syndrome (BPES) is an autosomal dominant developmental disorder in which craniofacial/eyelid malformations are associated (type I) or not (type II) with premature ovarian failure (POF). Mutations in the FOXL2 gene, encoding a forkhead transcription factor, are responsible for both types of BPES. Heterozygous polyalanine expansions of +10 residues (FOXL2-Ala24) account for 30% of FOXL2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17089161
DOI: 10.1007/s00439-006-0276-0

Genes

FOXL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.PMID 17089161Read ↗

The combination of polyalanine expansion mutation and a novel missense substitution in transcription factor FOXL2 leads to different ovarian phenotypes in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) patients.Semantic proximity Read ↗

The mutations and potential targets of the forkhead transcription factor FOXL2.Semantic proximity Read ↗

The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome.Semantic proximity Read ↗

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.Semantic proximity Read ↗

Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.Semantic proximity Read ↗

A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome.Semantic proximity Read ↗

FOXL2 mutations and genomic rearrangements in BPES.Semantic proximity Read ↗

An investigation into FOXE1 polyalanine tract length in premature ovarian failure.Semantic proximity Read ↗

Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II.Semantic proximity Read ↗

Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients.Semantic proximity Read ↗

Variant curation of the largest compendium of <i>FOXL2</i> coding and non-coding sequence and structural variants in BPESSemantic proximity Read ↗

A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation.Semantic proximity Read ↗

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