Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

Abstract:

:Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant disorder characterized by blepharophimosis, ptosis and epicanthus inversus. Based on the presence and absence of premature ovarian failure, two clinical types have been distinguished. Both types of BPES have been mapped to chromosome 3q23 and are mostly due to mutations of a forkhead transcription factor FOXL2 gene which locates at this region. We screened for FOXL2 mutations in Chinese patients with BPES. A novel mutation (g.901-930dup30) which could result in an expansion of the polyalanine tract was found in two BPES type II families and one sporadic case. In addition, a new g.952delC mutation was identified in two patients from a BPES family of undetermined type. The previously reported g.892C>T (p.Q219X) was also found in 12 patients from a large BPES family of type I. No mutations were detected in three other BPES families and three sporadic cases. So we speculate that in a fraction of the BPES patients the genetic defect may represent a change in gene dosage or a rearrangement outside the transcription unit of FOXL2.

journal_name

Mutagenesis

journal_title

Mutagenesis

authors

Tang S,Wang X,Lin L,Sun Y,Wang Y,Yu H

doi

10.1093/mutage/gei067

subject

Has Abstract

pub_date

2006-01-01 00:00:00

pages

35-9

issue

1

eissn

0267-8357

issn

1464-3804

pii

gei067

journal_volume

21

pub_type

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