A novel spliceosomopathy caused by de novo SF3B3 variants

Luciana Musante; Pavel Janos; Giulia Pianigiani; Sara Cappelli; Alessandra Longo; Carolina Alves; Eva Mc Schwaibold; Matias Wagner; Gregory Costain; Run Fridriksdottir; Kari Stefansson; Patrick Sulem; Klaske D Lichtenbelt; Ellen van Binsbergen; Richard H van Jaarsveld; Alfredo Brusco; Lisa Pavinato; Elisa Biamino; Alessandra Spano; Clara C Hildebrandt; Yee-Ming Chan; Emily Groopman; Michal Berkenstadt; Daniel Koboldt; Rachel Williamson; Han G Brunner; Lisenka Elm Vissers; Pernille M Torring; Qin Hao; Bruce D Gelb; Elizabeth Goldmuntz; Kristen Reed; Emma C Bedoukian; Davide Vecchio; Emanuela Salzano; Maria Piccione; Caterina Zanus; Catia Mio; Evan E Eichler; Tianyun Wang; Wesley G Patterson; Kameryn M Butler; Mattie Piotrowski; Sandra Mercier; Benjamin Cogné; Ingrid M Wentzensen; Emanuele Buratti; Alessandra Magistrato; Flavio Faletra

doi:10.1186/s13073-026-01610-4

A novel spliceosomopathy caused by de novo SF3B3 variants

Luciana Musante^*
, Pavel Janos
, Giulia Pianigiani
, Sara Cappelli
, Alessandra Longo
, Carolina Alves
, Eva Mc Schwaibold
, Matias Wagner
, Gregory Costain
, Run Fridriksdottir
, Kari Stefansson
, Patrick Sulem
, Klaske D Lichtenbelt
, Ellen van Binsbergen
, Richard H van Jaarsveld
, Alfredo Brusco
, Lisa Pavinato
, Elisa Biamino
, Alessandra Spano
, Clara C Hildebrandt

Yee-Ming Chan, Emily Groopman, Michal Berkenstadt, Daniel Koboldt, Rachel Williamson, Han G Brunner, Lisenka Elm Vissers, Pernille M Torring, Qin Hao, Bruce D Gelb, Elizabeth Goldmuntz, Kristen Reed, Emma C Bedoukian, Davide Vecchio, Emanuela Salzano, Maria Piccione, Caterina Zanus, Catia Mio, Evan E Eichler, Tianyun Wang, Wesley G Patterson, Kameryn M Butler, Mattie Piotrowski, Sandra Mercier, Benjamin Cogné, Ingrid M Wentzensen, Emanuele Buratti, Alessandra Magistrato, Flavio Faletra^*

^*Corresponding author for this work

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

Original language	English
Article number	34
Journal	Genome Medicine
Volume	18
Early online date	19 Feb 2026
DOIs	https://doi.org/10.1186/s13073-026-01610-4
Publication status	Published - 27 Mar 2026

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A novel spliceosomopathy caused by de novo SF3B3 variantsFinal published version, 7.03 MBLicence: CC BY-NC-ND

Cite this

Musante, L., Janos, P., Pianigiani, G., Cappelli, S., Longo, A., Alves, C., Schwaibold, E. M., Wagner, M., Costain, G., Fridriksdottir, R., Stefansson, K., Sulem, P., Lichtenbelt, K. D., van Binsbergen, E., van Jaarsveld, R. H., Brusco, A., Pavinato, L., Biamino, E., Spano, A., ... Faletra, F. (2026). A novel spliceosomopathy caused by de novo SF3B3 variants. Genome Medicine, 18, Article 34. https://doi.org/10.1186/s13073-026-01610-4

@article{2027c668f76e4ff8859509a164544143,

title = "A novel spliceosomopathy caused by de novo SF3B3 variants",

author = "Luciana Musante and Pavel Janos and Giulia Pianigiani and Sara Cappelli and Alessandra Longo and Carolina Alves and Schwaibold, \{Eva Mc\} and Matias Wagner and Gregory Costain and Run Fridriksdottir and Kari Stefansson and Patrick Sulem and Lichtenbelt, \{Klaske D\} and \{van Binsbergen\}, Ellen and \{van Jaarsveld\}, \{Richard H\} and Alfredo Brusco and Lisa Pavinato and Elisa Biamino and Alessandra Spano and Hildebrandt, \{Clara C\} and Yee-Ming Chan and Emily Groopman and Michal Berkenstadt and Daniel Koboldt and Rachel Williamson and Brunner, \{Han G\} and Vissers, \{Lisenka Elm\} and Torring, \{Pernille M\} and Qin Hao and Gelb, \{Bruce D\} and Elizabeth Goldmuntz and Kristen Reed and Bedoukian, \{Emma C\} and Davide Vecchio and Emanuela Salzano and Maria Piccione and Caterina Zanus and Catia Mio and Eichler, \{Evan E\} and Tianyun Wang and Patterson, \{Wesley G\} and Butler, \{Kameryn M\} and Mattie Piotrowski and Sandra Mercier and Benjamin Cogn{\'e} and Wentzensen, \{Ingrid M\} and Emanuele Buratti and Alessandra Magistrato and Flavio Faletra",

year = "2026",

month = mar,

day = "27",

doi = "10.1186/s13073-026-01610-4",

language = "English",

volume = "18",

journal = "Genome Medicine",

issn = "1756-994x",

publisher = "BioMed Central Ltd.",

}

Musante, L, Janos, P, Pianigiani, G, Cappelli, S, Longo, A, Alves, C, Schwaibold, EM, Wagner, M, Costain, G, Fridriksdottir, R, Stefansson, K, Sulem, P, Lichtenbelt, KD , van Binsbergen, E , van Jaarsveld, RH, Brusco, A, Pavinato, L, Biamino, E, Spano, A, Hildebrandt, CC, Chan, Y-M, Groopman, E, Berkenstadt, M, Koboldt, D, Williamson, R, Brunner, HG, Vissers, LE, Torring, PM, Hao, Q, Gelb, BD, Goldmuntz, E, Reed, K, Bedoukian, EC, Vecchio, D, Salzano, E, Piccione, M, Zanus, C, Mio, C, Eichler, EE, Wang, T, Patterson, WG, Butler, KM, Piotrowski, M, Mercier, S, Cogné, B, Wentzensen, IM, Buratti, E, Magistrato, A & Faletra, F 2026, 'A novel spliceosomopathy caused by de novo SF3B3 variants', Genome Medicine, vol. 18, 34. https://doi.org/10.1186/s13073-026-01610-4

TY - JOUR

T1 - A novel spliceosomopathy caused by de novo SF3B3 variants

AU - Musante, Luciana

AU - Janos, Pavel

AU - Pianigiani, Giulia

AU - Cappelli, Sara

AU - Longo, Alessandra

AU - Alves, Carolina

AU - Schwaibold, Eva Mc

AU - Wagner, Matias

AU - Costain, Gregory

AU - Fridriksdottir, Run

AU - Stefansson, Kari

AU - Sulem, Patrick

AU - Lichtenbelt, Klaske D

AU - van Binsbergen, Ellen

AU - van Jaarsveld, Richard H

AU - Brusco, Alfredo

AU - Pavinato, Lisa

AU - Biamino, Elisa

AU - Spano, Alessandra

AU - Hildebrandt, Clara C

AU - Chan, Yee-Ming

AU - Groopman, Emily

AU - Berkenstadt, Michal

AU - Koboldt, Daniel

AU - Williamson, Rachel

AU - Brunner, Han G

AU - Vissers, Lisenka Elm

AU - Torring, Pernille M

AU - Hao, Qin

AU - Gelb, Bruce D

AU - Goldmuntz, Elizabeth

AU - Reed, Kristen

AU - Bedoukian, Emma C

AU - Vecchio, Davide

AU - Salzano, Emanuela

AU - Piccione, Maria

AU - Zanus, Caterina

AU - Mio, Catia

AU - Eichler, Evan E

AU - Wang, Tianyun

AU - Patterson, Wesley G

AU - Butler, Kameryn M

AU - Piotrowski, Mattie

AU - Mercier, Sandra

AU - Cogné, Benjamin

AU - Wentzensen, Ingrid M

AU - Buratti, Emanuele

AU - Magistrato, Alessandra

AU - Faletra, Flavio

PY - 2026/3/27

Y1 - 2026/3/27

U2 - 10.1186/s13073-026-01610-4

DO - 10.1186/s13073-026-01610-4

M3 - Article

C2 - 41709284

SN - 1756-994x

VL - 18

JO - Genome Medicine

JF - Genome Medicine

M1 - 34

ER -