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Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene. / van de Beek, Irma; Glykofridis, Iris E.; Tanck, Michael W.T. et al.

In: Journal of human genetics, Vol. 68, No. 4, 04.2023, p. 273-279.

Research output: Contribution to journal › Article › Academic › peer-review

Harvard

van de Beek, I, Glykofridis, IE, Tanck, MWT, Luijten, MNH, Starink, TM, Balk, JA, Johannesma, PC, Hennekam, E, van den Hoff, MJB, Gunst, QD, Gille, JJP, Polstra, AM, Postmus, PE, van Steensel, MAM, Postma, AV, Wolthuis, RMF, Menko, FH, Houweling, AC & Waisfisz, Q 2023, 'Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene', Journal of human genetics, vol. 68, no. 4, pp. 273-279. https://doi.org/10.1038/s10038-022-01113-1

APA

van de Beek, I., Glykofridis, I. E., Tanck, M. W. T., Luijten, M. N. H., Starink, T. M., Balk, J. A., Johannesma, P. C., Hennekam, E., van den Hoff, M. J. B., Gunst, Q. D., Gille, J. J. P., Polstra, A. M., Postmus, P. E., van Steensel, M. A. M., Postma, A. V., Wolthuis, R. M. F., Menko, F. H., Houweling, A. C., & Waisfisz, Q. (2023). Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene. Journal of human genetics, 68(4), 273-279. https://doi.org/10.1038/s10038-022-01113-1

Vancouver

van de Beek I, Glykofridis IE, Tanck MWT, Luijten MNH, Starink TM, Balk JA et al. Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene. Journal of human genetics. 2023 Apr;68(4):273-279. doi: 10.1038/s10038-022-01113-1

Author

van de Beek, Irma ; Glykofridis, Iris E. ; Tanck, Michael W.T. et al. / Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene. In: Journal of human genetics. 2023 ; Vol. 68, No. 4. pp. 273-279.

BibTeX

@article{2785e340a58a4adeb74e2e3edf287cc8,
title = "Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene",
abstract = "Previously, we reported a series of families presenting with trichodiscomas, inherited in an autosomal dominant pattern. The phenotype was named familial multiple discoid fibromas (FMDF). The genetic cause of FMDF remained unknown so far. Trichodiscomas are skin lesions previously reported to be part of the same spectrum as the fibrofolliculoma observed in Birt-Hogg-Dub{\'e} syndrome (BHD), an inherited disease caused by pathogenic variants in the FLCN gene. Given the clinical and histological differences with BHD and the exclusion of linkage with the FLCN locus, the phenotype was concluded to be distinct from BHD. We performed extensive clinical evaluations and genetic testing in ten families with FMDF. We identified a FNIP1 frameshift variant in nine families and genealogical studies showed common ancestry for eight families. Using whole exome sequencing, we identified six additional rare variants in the haplotype surrounding FNIP1, including a missense variant in the PDGFRB gene that was found to be present in all tested patients with FMDF. Genome-wide linkage analysis showed that the locus on chromosome 5 including FNIP1 was the only region reaching the maximal possible LOD score. We concluded that FMDF is linked to a haplotype on chromosome 5. Additional evaluations in families with FMDF are required to unravel the exact genetic cause underlying the phenotype. When evaluating patients with multiple trichodisomas without a pathogenic variant in the FLCN gene, further genetic testing is warranted and can include analysis of the haplotype on chromosome 5.",
author = "{van de Beek}, Irma and Glykofridis, {Iris E.} and Tanck, {Michael W.T.} and Luijten, {Monique N.H.} and Starink, {Theo M.} and Balk, {Jesper A.} and Johannesma, {Paul C.} and Eric Hennekam and {van den Hoff}, {Maurice J.B.} and Gunst, {Quinn D.} and Gille, {Johan J.P.} and Polstra, {Abeltje M.} and Postmus, {Pieter E.} and {van Steensel}, {Maurice A.M.} and Postma, {Alex V.} and Wolthuis, {Rob M.F.} and Menko, {Fred H.} and Houweling, {Arjan C.} and Quinten Waisfisz",
note = "Funding Information: We thank Francesco Saettini for his effort to re-assess the parents of a patient with FNIP1 deficiency for skin lesions. Publisher Copyright: {\textcopyright} 2022, The Author(s), under exclusive licence to The Japan Society of Human Genetics.",
year = "2023",
month = apr,
doi = "10.1038/s10038-022-01113-1",
language = "English",
volume = "68",
pages = "273--279",
journal = "Journal of human genetics",
issn = "1434-5161",
publisher = "Nature Publishing Group",
number = "4",

}

RIS

TY - JOUR

T1 - Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene

AU - van de Beek, Irma

AU - Glykofridis, Iris E.

AU - Tanck, Michael W.T.

AU - Luijten, Monique N.H.

AU - Starink, Theo M.

AU - Balk, Jesper A.

AU - Johannesma, Paul C.

AU - Hennekam, Eric

AU - van den Hoff, Maurice J.B.

AU - Gunst, Quinn D.

AU - Gille, Johan J.P.

AU - Polstra, Abeltje M.

AU - Postmus, Pieter E.

AU - van Steensel, Maurice A.M.

AU - Postma, Alex V.

AU - Wolthuis, Rob M.F.

AU - Menko, Fred H.

AU - Houweling, Arjan C.

AU - Waisfisz, Quinten

N1 - Funding Information: We thank Francesco Saettini for his effort to re-assess the parents of a patient with FNIP1 deficiency for skin lesions. Publisher Copyright: © 2022, The Author(s), under exclusive licence to The Japan Society of Human Genetics.

PY - 2023/4

Y1 - 2023/4

N2 - Previously, we reported a series of families presenting with trichodiscomas, inherited in an autosomal dominant pattern. The phenotype was named familial multiple discoid fibromas (FMDF). The genetic cause of FMDF remained unknown so far. Trichodiscomas are skin lesions previously reported to be part of the same spectrum as the fibrofolliculoma observed in Birt-Hogg-Dubé syndrome (BHD), an inherited disease caused by pathogenic variants in the FLCN gene. Given the clinical and histological differences with BHD and the exclusion of linkage with the FLCN locus, the phenotype was concluded to be distinct from BHD. We performed extensive clinical evaluations and genetic testing in ten families with FMDF. We identified a FNIP1 frameshift variant in nine families and genealogical studies showed common ancestry for eight families. Using whole exome sequencing, we identified six additional rare variants in the haplotype surrounding FNIP1, including a missense variant in the PDGFRB gene that was found to be present in all tested patients with FMDF. Genome-wide linkage analysis showed that the locus on chromosome 5 including FNIP1 was the only region reaching the maximal possible LOD score. We concluded that FMDF is linked to a haplotype on chromosome 5. Additional evaluations in families with FMDF are required to unravel the exact genetic cause underlying the phenotype. When evaluating patients with multiple trichodisomas without a pathogenic variant in the FLCN gene, further genetic testing is warranted and can include analysis of the haplotype on chromosome 5.

AB - Previously, we reported a series of families presenting with trichodiscomas, inherited in an autosomal dominant pattern. The phenotype was named familial multiple discoid fibromas (FMDF). The genetic cause of FMDF remained unknown so far. Trichodiscomas are skin lesions previously reported to be part of the same spectrum as the fibrofolliculoma observed in Birt-Hogg-Dubé syndrome (BHD), an inherited disease caused by pathogenic variants in the FLCN gene. Given the clinical and histological differences with BHD and the exclusion of linkage with the FLCN locus, the phenotype was concluded to be distinct from BHD. We performed extensive clinical evaluations and genetic testing in ten families with FMDF. We identified a FNIP1 frameshift variant in nine families and genealogical studies showed common ancestry for eight families. Using whole exome sequencing, we identified six additional rare variants in the haplotype surrounding FNIP1, including a missense variant in the PDGFRB gene that was found to be present in all tested patients with FMDF. Genome-wide linkage analysis showed that the locus on chromosome 5 including FNIP1 was the only region reaching the maximal possible LOD score. We concluded that FMDF is linked to a haplotype on chromosome 5. Additional evaluations in families with FMDF are required to unravel the exact genetic cause underlying the phenotype. When evaluating patients with multiple trichodisomas without a pathogenic variant in the FLCN gene, further genetic testing is warranted and can include analysis of the haplotype on chromosome 5.

UR - http://www.scopus.com/inward/record.url?scp=85145610461&partnerID=8YFLogxK

U2 - 10.1038/s10038-022-01113-1

DO - 10.1038/s10038-022-01113-1

M3 - Article

C2 - 36599954

AN - SCOPUS:85145610461

VL - 68

SP - 273

EP - 279

JO - Journal of human genetics

JF - Journal of human genetics

SN - 1434-5161

IS - 4

ER -

ID: 30632774