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Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

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Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140. / Geoffroy, Véronique; Stoetzel, Corinne; Scheidecker, Sophie; Schaefer, Elise; Perrault, Isabelle; Bär, Séverine; Kröll, Ariane; Delbarre, Marion; Antin, Manuela; Leuvrey, Anne-Sophie; Henry, Charline; Blanché, Hélène; Decker, Eva; Kloth, Katja; Klaus, Günter; Mache, Christoph; Martin-Coignard, Dominique; McGinn, Steven; Boland, Anne; Deleuze, Jean-François; Friant, Sylvie; Saunier, Sophie; Rozet, Jean-Michel; Bergmann, Carsten; Dollfus, Hélène; Muller, Jean.

In: HUM MUTAT, Vol. 39, No. 7, 07.2018, p. 983-992.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Geoffroy, V, Stoetzel, C, Scheidecker, S, Schaefer, E, Perrault, I, Bär, S, Kröll, A, Delbarre, M, Antin, M, Leuvrey, A-S, Henry, C, Blanché, H, Decker, E, Kloth, K, Klaus, G, Mache, C, Martin-Coignard, D, McGinn, S, Boland, A, Deleuze, J-F, Friant, S, Saunier, S, Rozet, J-M, Bergmann, C, Dollfus, H & Muller, J 2018, 'Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140', HUM MUTAT, vol. 39, no. 7, pp. 983-992. https://doi.org/10.1002/humu.23539

APA

Geoffroy, V., Stoetzel, C., Scheidecker, S., Schaefer, E., Perrault, I., Bär, S., Kröll, A., Delbarre, M., Antin, M., Leuvrey, A-S., Henry, C., Blanché, H., Decker, E., Kloth, K., Klaus, G., Mache, C., Martin-Coignard, D., McGinn, S., Boland, A., ... Muller, J. (2018). Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140. HUM MUTAT, 39(7), 983-992. https://doi.org/10.1002/humu.23539

Vancouver

Geoffroy V, Stoetzel C, Scheidecker S, Schaefer E, Perrault I, Bär S et al. Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140. HUM MUTAT. 2018 Jul;39(7):983-992. https://doi.org/10.1002/humu.23539

Bibtex

@article{e9fabf5b38f545d8879396e920128855,
title = "Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140",
abstract = "Ciliopathies represent a wide spectrum of rare diseases with overlapping phenotypes and a high genetic heterogeneity. Among those, IFT140 is implicated in a variety of phenotypes ranging from isolated retinis pigmentosa to more syndromic cases. Using whole-genome sequencing in patients with uncharacterized ciliopathies, we identified a novel recurrent tandem duplication of exon 27-30 (6.7 kb) in IFT140, c.3454-488_4182+2588dup p.(Tyr1152_Thr1394dup), missed by whole-exome sequencing. Pathogenicity of the mutation was assessed on the patients' skin fibroblasts. Several hundreds of patients with a ciliopathy phenotype were screened and biallelic mutations were identified in 11 families representing 12 pathogenic variants of which seven are novel. Among those unrelated families especially with a Mainzer-Saldino syndrome, eight carried the same tandem duplication (two at the homozygous state and six at the heterozygous state). In conclusion, we demonstrated the implication of structural variations in IFT140-related diseases expanding its mutation spectrum. We also provide evidences for a unique genomic event mediated by an Alu-Alu recombination occurring on a shared haplotype. We confirm that whole-genome sequencing can be instrumental in the ability to detect structural variants for genomic disorders.",
keywords = "Journal Article",
author = "V{\'e}ronique Geoffroy and Corinne Stoetzel and Sophie Scheidecker and Elise Schaefer and Isabelle Perrault and S{\'e}verine B{\"a}r and Ariane Kr{\"o}ll and Marion Delbarre and Manuela Antin and Anne-Sophie Leuvrey and Charline Henry and H{\'e}l{\`e}ne Blanch{\'e} and Eva Decker and Katja Kloth and G{\"u}nter Klaus and Christoph Mache and Dominique Martin-Coignard and Steven McGinn and Anne Boland and Jean-Fran{\c c}ois Deleuze and Sylvie Friant and Sophie Saunier and Jean-Michel Rozet and Carsten Bergmann and H{\'e}l{\`e}ne Dollfus and Jean Muller",
note = "{\textcopyright} 2018 Wiley Periodicals, Inc.",
year = "2018",
month = jul,
doi = "10.1002/humu.23539",
language = "English",
volume = "39",
pages = "983--992",
journal = "HUM MUTAT",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "7",

}

RIS

TY - JOUR

T1 - Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

AU - Geoffroy, Véronique

AU - Stoetzel, Corinne

AU - Scheidecker, Sophie

AU - Schaefer, Elise

AU - Perrault, Isabelle

AU - Bär, Séverine

AU - Kröll, Ariane

AU - Delbarre, Marion

AU - Antin, Manuela

AU - Leuvrey, Anne-Sophie

AU - Henry, Charline

AU - Blanché, Hélène

AU - Decker, Eva

AU - Kloth, Katja

AU - Klaus, Günter

AU - Mache, Christoph

AU - Martin-Coignard, Dominique

AU - McGinn, Steven

AU - Boland, Anne

AU - Deleuze, Jean-François

AU - Friant, Sylvie

AU - Saunier, Sophie

AU - Rozet, Jean-Michel

AU - Bergmann, Carsten

AU - Dollfus, Hélène

AU - Muller, Jean

N1 - © 2018 Wiley Periodicals, Inc.

PY - 2018/7

Y1 - 2018/7

N2 - Ciliopathies represent a wide spectrum of rare diseases with overlapping phenotypes and a high genetic heterogeneity. Among those, IFT140 is implicated in a variety of phenotypes ranging from isolated retinis pigmentosa to more syndromic cases. Using whole-genome sequencing in patients with uncharacterized ciliopathies, we identified a novel recurrent tandem duplication of exon 27-30 (6.7 kb) in IFT140, c.3454-488_4182+2588dup p.(Tyr1152_Thr1394dup), missed by whole-exome sequencing. Pathogenicity of the mutation was assessed on the patients' skin fibroblasts. Several hundreds of patients with a ciliopathy phenotype were screened and biallelic mutations were identified in 11 families representing 12 pathogenic variants of which seven are novel. Among those unrelated families especially with a Mainzer-Saldino syndrome, eight carried the same tandem duplication (two at the homozygous state and six at the heterozygous state). In conclusion, we demonstrated the implication of structural variations in IFT140-related diseases expanding its mutation spectrum. We also provide evidences for a unique genomic event mediated by an Alu-Alu recombination occurring on a shared haplotype. We confirm that whole-genome sequencing can be instrumental in the ability to detect structural variants for genomic disorders.

AB - Ciliopathies represent a wide spectrum of rare diseases with overlapping phenotypes and a high genetic heterogeneity. Among those, IFT140 is implicated in a variety of phenotypes ranging from isolated retinis pigmentosa to more syndromic cases. Using whole-genome sequencing in patients with uncharacterized ciliopathies, we identified a novel recurrent tandem duplication of exon 27-30 (6.7 kb) in IFT140, c.3454-488_4182+2588dup p.(Tyr1152_Thr1394dup), missed by whole-exome sequencing. Pathogenicity of the mutation was assessed on the patients' skin fibroblasts. Several hundreds of patients with a ciliopathy phenotype were screened and biallelic mutations were identified in 11 families representing 12 pathogenic variants of which seven are novel. Among those unrelated families especially with a Mainzer-Saldino syndrome, eight carried the same tandem duplication (two at the homozygous state and six at the heterozygous state). In conclusion, we demonstrated the implication of structural variations in IFT140-related diseases expanding its mutation spectrum. We also provide evidences for a unique genomic event mediated by an Alu-Alu recombination occurring on a shared haplotype. We confirm that whole-genome sequencing can be instrumental in the ability to detect structural variants for genomic disorders.

KW - Journal Article

U2 - 10.1002/humu.23539

DO - 10.1002/humu.23539

M3 - SCORING: Journal article

C2 - 29688594

VL - 39

SP - 983

EP - 992

JO - HUM MUTAT

JF - HUM MUTAT

SN - 1059-7794

IS - 7

ER -