Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population

Aude Beyens; Stefanie Van De Voorde; Marta Guerreiro Santano Ramos Da Silva; Sofie De Meulemeester; Koen Devriendt; Marleen Goeteyn; Sandra Janssens; R Frank Kooy; Toon Rosseel; Sofie Symoens; Frederik Jan Hes; Kathelijn Keymolen; Boyan Dimitrov; Bert Callewaert

doi:10.1111/cge.14705

Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population

Aude Beyens, Stefanie Van De Voorde, Marta Guerreiro Santano Ramos Da Silva, Sofie De Meulemeester, Koen Devriendt, Marleen Goeteyn, Sandra Janssens, R Frank Kooy, Toon Rosseel, Sofie Symoens, Frederik Jan Hes, Kathelijn Keymolen, Boyan Dimitrov, Bert Callewaert

Onderzoeksoutput: Letter › peer review

Samenvatting

Focal facial dermal dysplasia (FFDD) type IV is a rare inherited facial defect caused by biallelic variants in CYP26C1. This study reports two novel Belgian FFDD type IV cases, both homozygous for a recurrent CYP26C1 frameshift variant, with a common 700 kb haplotype, indicating a founder effect.

Originele taal-2	English
Pagina's (van-tot)	579-581
Aantal pagina's	3
Tijdschrift	Clinical Genetics
Volume	107
Nummer van het tijdschrift	5
DOI's	https://doi.org/10.1111/cge.14705
Status	Published - 19 jan. 2025

Bibliografische nota

Funding Information:
This work was supported by Research Foundation\u2014Flanders. Funding:

Toegang tot document

10.1111/cge.14705

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Beyens, A., Van De Voorde, S., Guerreiro Santano Ramos Da Silva, M., De Meulemeester, S., Devriendt, K., Goeteyn, M., Janssens, S., Kooy, R. F., Rosseel, T., Symoens, S., Hes, F. J., Keymolen, K., Dimitrov, B., & Callewaert, B. (2025). Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population. Clinical Genetics, 107(5), 579-581. https://doi.org/10.1111/cge.14705

@article{ed08a04c85f044e7910c93c59fc670a3,

title = "Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population",

abstract = "Focal facial dermal dysplasia (FFDD) type IV is a rare inherited facial defect caused by biallelic variants in CYP26C1. This study reports two novel Belgian FFDD type IV cases, both homozygous for a recurrent CYP26C1 frameshift variant, with a common 700 kb haplotype, indicating a founder effect.",

author = "Aude Beyens and {Van De Voorde}, Stefanie and {Guerreiro Santano Ramos Da Silva}, Marta and {De Meulemeester}, Sofie and Koen Devriendt and Marleen Goeteyn and Sandra Janssens and Kooy, {R Frank} and Toon Rosseel and Sofie Symoens and Hes, {Frederik Jan} and Kathelijn Keymolen and Boyan Dimitrov and Bert Callewaert",

note = "Funding Information: This work was supported by Research Foundation\u2014Flanders. Funding:",

year = "2025",

month = jan,

day = "19",

doi = "10.1111/cge.14705",

language = "English",

volume = "107",

pages = "579--581",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell",

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}

Beyens, A, Van De Voorde, S, Guerreiro Santano Ramos Da Silva, M, De Meulemeester, S, Devriendt, K, Goeteyn, M, Janssens, S, Kooy, RF, Rosseel, T, Symoens, S, Hes, FJ , Keymolen, K , Dimitrov, B & Callewaert, B 2025, 'Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population', Clinical Genetics, vol. 107, nr. 5, blz. 579-581. https://doi.org/10.1111/cge.14705

TY - JOUR

T1 - Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population

AU - Beyens, Aude

AU - Van De Voorde, Stefanie

AU - Guerreiro Santano Ramos Da Silva, Marta

AU - De Meulemeester, Sofie

AU - Devriendt, Koen

AU - Goeteyn, Marleen

AU - Janssens, Sandra

AU - Kooy, R Frank

AU - Rosseel, Toon

AU - Symoens, Sofie

AU - Hes, Frederik Jan

AU - Keymolen, Kathelijn

AU - Dimitrov, Boyan

AU - Callewaert, Bert

N1 - Funding Information: This work was supported by Research Foundation\u2014Flanders. Funding:

PY - 2025/1/19

Y1 - 2025/1/19

N2 - Focal facial dermal dysplasia (FFDD) type IV is a rare inherited facial defect caused by biallelic variants in CYP26C1. This study reports two novel Belgian FFDD type IV cases, both homozygous for a recurrent CYP26C1 frameshift variant, with a common 700 kb haplotype, indicating a founder effect.

AB - Focal facial dermal dysplasia (FFDD) type IV is a rare inherited facial defect caused by biallelic variants in CYP26C1. This study reports two novel Belgian FFDD type IV cases, both homozygous for a recurrent CYP26C1 frameshift variant, with a common 700 kb haplotype, indicating a founder effect.

UR - http://www.scopus.com/inward/record.url?scp=85215517426&partnerID=8YFLogxK

U2 - 10.1111/cge.14705

DO - 10.1111/cge.14705

M3 - Letter

C2 - 39828664

SN - 0009-9163

VL - 107

SP - 579

EP - 581

JO - Clinical Genetics

JF - Clinical Genetics

IS - 5

ER -