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J M Van Hagen - One of the best experts on this subject based on the ideXlab platform.

  • interstitial deletion in 3q in a patient with blepharophimosis ptosis Epicanthus inversus syndrome bpes and microcephaly mild mental retardation and growth delay clinical report and review of the literature
    American Journal of Medical Genetics Part A, 2005
    Co-Authors: Johan J P Gille, Aggie W M Nieuwint, J B Bijlsma, J F Van Der Blij, J M Van Hagen
    Abstract:

    We present a boy with blepharophimosis, ptosis, Epicanthus inversus, microcephaly, mild mental retardation, and growth delay. Chromosomal analysis revealed a male karyotype with an interstitial deletion in the long arm of chromosome 3. DNA-analysis showed that the deletion is of maternal origin and encompasses the region between markers D3S1535 and D3S1593. The deletion contains not only the FOXL2 gene, but also the gene encoding ataxia-telangiectasia and Rad3-related protein (ATR). Mutations in FOXL2 have been shown to cause blepharophimosis-ptosis-Epicanthus inversus syndrome (BPES). ATR has been identified as a candidate gene for Seckel syndrome, an autosomal recessive syndrome that comprises growth retardation, microcephaly, and mental retardation. We hypothesize that our patient has a contiguous gene syndrome and that the non-BPES-associated abnormalities (microcephaly, mild mental retardation, and growth delay) are the result of the deletion of the maternal ATR gene. However, it has not yet been excluded that haploinsufficiency of some other gene in this region plays a role.

Yan-li Wang - One of the best experts on this subject based on the ideXlab platform.

  • Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosis-ptosis-Epicanthus inversus syndrome.
    Mutagenesis, 2006
    Co-Authors: Sheng-jian Tang, Xiao-ke Wang, Yan Sun, Li-xin Lin, Yan-li Wang
    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.

  • A novel mutation in the FOXL2 gene in a Chinese family with blepharophimosis, ptosis, and Epicanthus inversus syndrome.
    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2005
    Co-Authors: Xiao-ke Wang, Yan Sun, Yan-li Wang, Li-xin Lin, Sheng-jian Tang
    Abstract:

    Objective To screen mutations in the forkhead transcriptional factor 2 gene (FOXL2) in six Chinese families with blepharophimosis, ptosis, and Epicanthus inversus syndrome(BPES). Methods PCR amplification and direct sequencing of the FOXL2 coding region in genomic DNA were performed in affected patients and 80 healthy controls. BLAST analysis of the sequence was made on Internet.Results A novel 951-953(delC) was found in the two affected patients of a Chinese family with BPES. No mutations were found in the healthy controls. The 951-953(delC) may cause a frameshift mutation after codon 238 that exists downstream of the forkhead domain, resulting in the production of truncated proteins. Conclusion These findings indicated that the 951-953(delC) deletion mutation in the two patients resulted in truncated proteins and hence led to their BPES. To the authors' knowledge, the 951-953(delC) in FOXL2 has not been previously reported. Key words: blepharophimosis, ptosis, and Epicanthus inversus syndrome;  FOXL2 gene;  polymerase chain reaction;  mutation

A. Tyers - One of the best experts on this subject based on the ideXlab platform.

  • Blepharophimosis ptosis Epicanthus inversus syndrome (BPES) (corrected)
    Klinische Monatsblatter fur Augenheilkunde, 2012
    Co-Authors: A. Tyers
    Abstract:

    The blepharophimosis ptosis Epicanthus inversus syndrome (BPES, also known as Waardenburg syndrome) was probably first reported by Ammon in 1841 and discribed more fully by Vignes in 1889. Its primary effects on the soft tissue of the midface are blepharophimosis, ptosis, Epicanthus inversus and telecanthus. It starts with the epicanthic folds at about the age of 3-4 years, followed by the correction of the ptosis about 9-12 months later. Early surgery may be necessary for amblyopia. In 1995 the gene locus was identified as 3Q23. BPES is due to a mutation within a single gene, the FOXL2 gene. In female patients an early childhood ovarian insufficiency must be excluded.

  • The Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES, also known as Waardenburg Syndrome)
    Klinische Monatsblatter Fur Augenheilkunde, 2012
    Co-Authors: A. Tyers, H.-w. Meyer-rüsenberg
    Abstract:

    The blepharophimosis ptosis Epicanthus inversus syndrome (BPES, also known as Waardenburg syndrome) was probably first reported by Ammon in 1841 and discribed more fully by Vignes in 1889. Its primary effects on the soft tissue of the midface are blepharophimosis, ptosis, Epicanthus inversus and telecanthus. It starts with the epicanthic folds at about the age of 3 – 4 years, followed by the correction of the ptosis about 9 – 12 months later. Early surgery may be necessary for amblyopia. In 1995 the gene locus was identified as 3Q23. BPES is due to a mutation within a single gene, the FOXL2 gene. In female patients an early childhood ovarian insufficiency must be excluded.

Yuan Wang - One of the best experts on this subject based on the ideXlab platform.

Sheng-jian Tang - One of the best experts on this subject based on the ideXlab platform.

  • Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosis-ptosis-Epicanthus inversus syndrome.
    Mutagenesis, 2006
    Co-Authors: Sheng-jian Tang, Xiao-ke Wang, Yan Sun, Li-xin Lin, Yan-li Wang
    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.

  • A novel mutation in the FOXL2 gene in a Chinese family with blepharophimosis, ptosis, and Epicanthus inversus syndrome.
    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2005
    Co-Authors: Xiao-ke Wang, Yan Sun, Yan-li Wang, Li-xin Lin, Sheng-jian Tang
    Abstract:

    Objective To screen mutations in the forkhead transcriptional factor 2 gene (FOXL2) in six Chinese families with blepharophimosis, ptosis, and Epicanthus inversus syndrome(BPES). Methods PCR amplification and direct sequencing of the FOXL2 coding region in genomic DNA were performed in affected patients and 80 healthy controls. BLAST analysis of the sequence was made on Internet.Results A novel 951-953(delC) was found in the two affected patients of a Chinese family with BPES. No mutations were found in the healthy controls. The 951-953(delC) may cause a frameshift mutation after codon 238 that exists downstream of the forkhead domain, resulting in the production of truncated proteins. Conclusion These findings indicated that the 951-953(delC) deletion mutation in the two patients resulted in truncated proteins and hence led to their BPES. To the authors' knowledge, the 951-953(delC) in FOXL2 has not been previously reported. Key words: blepharophimosis, ptosis, and Epicanthus inversus syndrome;  FOXL2 gene;  polymerase chain reaction;  mutation