Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome

Diane Beysen; Sarah De Jaegere; David Amor; Philippe Bouchard; Sophie Christin-Maitre; Marc Fellous; Philippe Touraine; Arthur W. Grix; Raoul Hennekam; Françoise Meire; Nina Oyen; Louise C. Wilson; Dalit Barel; Jill Clayton-Smith; Thomy De Ravel; Christian Decock; Patricia Delbeke; Regina Ensenauer; Friedrich Ebinger; Gabriele Gillessen-Kaesbach; Yvonne Hendriks; Virginia Kimonis; Rachel Laframboise; Paul Laissue; Kathleen Leppig; Bart P. Leroy; David T. Miller; David Mowat; Luitgard Neumann; Astrid Plomp; Nicole Van Regemorter; Dagmar Wieczorek; Reiner A. Veitia; Anne De Paepe; Elfride De Baere

doi:10.1002/humu.20819

Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome

Diane Beysen, Sarah De Jaegere, David Amor, Philippe Bouchard, Sophie Christin-Maitre, Marc Fellous, Philippe Touraine, Arthur W. Grix, Raoul Hennekam, Françoise Meire, Nina Oyen, Louise C. Wilson, Dalit Barel, Jill Clayton-Smith, Thomy De Ravel, Christian Decock, Patricia Delbeke, Regina Ensenauer, Friedrich Ebinger, Gabriele Gillessen-KaesbachYvonne Hendriks, Virginia Kimonis, Rachel Laframboise, Paul Laissue, Kathleen Leppig, Bart P. Leroy, David T. Miller, David Mowat, Luitgard Neumann, Astrid Plomp, Nicole Van Regemorter, Dagmar Wieczorek, Reiner A. Veitia, Anne De Paepe, Elfride De Baere^*

^*Corresponding author for this work

Institute of Human Genetics

55 Citations (Scopus)

Abstract

Blepharophimosis syndrome (BPES) is caused by loss-of-function mutations in the single-exon forkhead transcription factor gene FOXL2 and by genomic rearrangements of the FOXL2 locus. Here, we focus on 92 new intragenic FOXL2 mutations, 34 of which are novel. Specifically, we found 10 nonsense mutations (11%), 13 missense mutations (14%), 40 deletions or insertions leading to a frameshift (43%), and 29 in-frame changes (32%), of which 28 (30%) lead to a polyalanine expansion. This study confirms the existence of two previously described mutational hotspots. Moreover, we gained novel insights in genotype-phenotype correlations, emphasizing the need to interpret genotype-phenotype correlations individually and always in the context of further clinical observations.

Original language	English
Journal	Human Mutation
Volume	29
Issue number	11
ISSN	1059-7794
DOIs	https://doi.org/10.1002/humu.20819
Publication status	Published - 01.11.2008

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Beysen, D., De Jaegere, S., Amor, D., Bouchard, P., Christin-Maitre, S., Fellous, M., Touraine, P., Grix, A. W., Hennekam, R., Meire, F., Oyen, N., Wilson, L. C., Barel, D., Clayton-Smith, J., De Ravel, T., Decock, C., Delbeke, P., Ensenauer, R., Ebinger, F., ... De Baere, E. (2008). Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome. Human Mutation, 29(11). https://doi.org/10.1002/humu.20819

@article{0a31b266e755480ab8d5b001ab16e4e4,

title = "Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome",

abstract = "Blepharophimosis syndrome (BPES) is caused by loss-of-function mutations in the single-exon forkhead transcription factor gene FOXL2 and by genomic rearrangements of the FOXL2 locus. Here, we focus on 92 new intragenic FOXL2 mutations, 34 of which are novel. Specifically, we found 10 nonsense mutations (11\%), 13 missense mutations (14\%), 40 deletions or insertions leading to a frameshift (43\%), and 29 in-frame changes (32\%), of which 28 (30\%) lead to a polyalanine expansion. This study confirms the existence of two previously described mutational hotspots. Moreover, we gained novel insights in genotype-phenotype correlations, emphasizing the need to interpret genotype-phenotype correlations individually and always in the context of further clinical observations.",

author = "Diane Beysen and \{De Jaegere\}, Sarah and David Amor and Philippe Bouchard and Sophie Christin-Maitre and Marc Fellous and Philippe Touraine and Grix, \{Arthur W.\} and Raoul Hennekam and Fran{\c c}oise Meire and Nina Oyen and Wilson, \{Louise C.\} and Dalit Barel and Jill Clayton-Smith and \{De Ravel\}, Thomy and Christian Decock and Patricia Delbeke and Regina Ensenauer and Friedrich Ebinger and Gabriele Gillessen-Kaesbach and Yvonne Hendriks and Virginia Kimonis and Rachel Laframboise and Paul Laissue and Kathleen Leppig and Leroy, \{Bart P.\} and Miller, \{David T.\} and David Mowat and Luitgard Neumann and Astrid Plomp and \{Van Regemorter\}, Nicole and Dagmar Wieczorek and Veitia, \{Reiner A.\} and \{De Paepe\}, Anne and \{De Baere\}, Elfride",

year = "2008",

month = nov,

day = "1",

doi = "10.1002/humu.20819",

language = "English",

volume = "29",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley and Sons Inc",

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Beysen, D, De Jaegere, S, Amor, D, Bouchard, P, Christin-Maitre, S, Fellous, M, Touraine, P, Grix, AW, Hennekam, R, Meire, F, Oyen, N, Wilson, LC, Barel, D, Clayton-Smith, J, De Ravel, T, Decock, C, Delbeke, P, Ensenauer, R, Ebinger, F, Gillessen-Kaesbach, G, Hendriks, Y, Kimonis, V, Laframboise, R, Laissue, P, Leppig, K, Leroy, BP, Miller, DT, Mowat, D, Neumann, L, Plomp, A, Van Regemorter, N, Wieczorek, D, Veitia, RA, De Paepe, A & De Baere, E 2008, 'Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome', Human Mutation, vol. 29, no. 11. https://doi.org/10.1002/humu.20819

TY - JOUR

T1 - Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome

AU - Beysen, Diane

AU - De Jaegere, Sarah

AU - Amor, David

AU - Bouchard, Philippe

AU - Christin-Maitre, Sophie

AU - Fellous, Marc

AU - Touraine, Philippe

AU - Grix, Arthur W.

AU - Hennekam, Raoul

AU - Meire, Françoise

AU - Oyen, Nina

AU - Wilson, Louise C.

AU - Barel, Dalit

AU - Clayton-Smith, Jill

AU - De Ravel, Thomy

AU - Decock, Christian

AU - Delbeke, Patricia

AU - Ensenauer, Regina

AU - Ebinger, Friedrich

AU - Gillessen-Kaesbach, Gabriele

AU - Hendriks, Yvonne

AU - Kimonis, Virginia

AU - Laframboise, Rachel

AU - Laissue, Paul

AU - Leppig, Kathleen

AU - Leroy, Bart P.

AU - Miller, David T.

AU - Mowat, David

AU - Neumann, Luitgard

AU - Plomp, Astrid

AU - Van Regemorter, Nicole

AU - Wieczorek, Dagmar

AU - Veitia, Reiner A.

AU - De Paepe, Anne

AU - De Baere, Elfride

PY - 2008/11/1

Y1 - 2008/11/1

N2 - Blepharophimosis syndrome (BPES) is caused by loss-of-function mutations in the single-exon forkhead transcription factor gene FOXL2 and by genomic rearrangements of the FOXL2 locus. Here, we focus on 92 new intragenic FOXL2 mutations, 34 of which are novel. Specifically, we found 10 nonsense mutations (11%), 13 missense mutations (14%), 40 deletions or insertions leading to a frameshift (43%), and 29 in-frame changes (32%), of which 28 (30%) lead to a polyalanine expansion. This study confirms the existence of two previously described mutational hotspots. Moreover, we gained novel insights in genotype-phenotype correlations, emphasizing the need to interpret genotype-phenotype correlations individually and always in the context of further clinical observations.

AB - Blepharophimosis syndrome (BPES) is caused by loss-of-function mutations in the single-exon forkhead transcription factor gene FOXL2 and by genomic rearrangements of the FOXL2 locus. Here, we focus on 92 new intragenic FOXL2 mutations, 34 of which are novel. Specifically, we found 10 nonsense mutations (11%), 13 missense mutations (14%), 40 deletions or insertions leading to a frameshift (43%), and 29 in-frame changes (32%), of which 28 (30%) lead to a polyalanine expansion. This study confirms the existence of two previously described mutational hotspots. Moreover, we gained novel insights in genotype-phenotype correlations, emphasizing the need to interpret genotype-phenotype correlations individually and always in the context of further clinical observations.

UR - https://www.scopus.com/pages/publications/45749097177

U2 - 10.1002/humu.20819

DO - 10.1002/humu.20819

M3 - Journal articles

C2 - 18642388

AN - SCOPUS:45749097177

SN - 1059-7794

VL - 29

JO - Human Mutation

JF - Human Mutation

IS - 11

ER -

Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome

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