Haploinsufficiency of SF3B2 causes craniofacial microsomia

Despite being a common congenital facial anomaly, the genetic etiology of craniofacial microsomia (CFM) is not well understood. Here, the authors use exome and genome sequencing of 146 individuals with CFM to identify haploinsufficient variants in SF3B2 as a prevalent underlying cause.

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Autores principales:	Andrew T. Timberlake, Casey Griffin, Carrie L. Heike, Anne V. Hing, Michael L. Cunningham, David Chitayat, Mark R. Davis, Soghra J. Doust, Amelia F. Drake, Milagros M. Duenas-Roque, Jack Goldblatt, Jonas A. Gustafson, Paula Hurtado-Villa, Alexis Johns, Natalya Karp, Nigel G. Laing, Leanne Magee, University of Washington Center for Mendelian Genomics, Sureni V. Mullegama, Harry Pachajoa, Gloria L. Porras-Hurtado, Rhonda E. Schnur, Jennie Slee, Steven L. Singer, David A. Staffenberg, Andrew E. Timms, Cheryl A. Wise, Ignacio Zarante, Jean-Pierre Saint-Jeannet, Daniela V. Luquetti
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/d765e285eeb1444f96c9860e6bc243dd
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spelling	oai:doaj.org-article:d765e285eeb1444f96c9860e6bc243dd2021-12-02T16:36:41ZHaploinsufficiency of SF3B2 causes craniofacial microsomia10.1038/s41467-021-24852-92041-1723https://doaj.org/article/d765e285eeb1444f96c9860e6bc243dd2021-08-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-24852-9https://doaj.org/toc/2041-1723Despite being a common congenital facial anomaly, the genetic etiology of craniofacial microsomia (CFM) is not well understood. Here, the authors use exome and genome sequencing of 146 individuals with CFM to identify haploinsufficient variants in SF3B2 as a prevalent underlying cause.Andrew T. TimberlakeCasey GriffinCarrie L. HeikeAnne V. HingMichael L. CunninghamDavid ChitayatMark R. DavisSoghra J. DoustAmelia F. DrakeMilagros M. Duenas-RoqueJack GoldblattJonas A. GustafsonPaula Hurtado-VillaAlexis JohnsNatalya KarpNigel G. LaingLeanne MageeUniversity of Washington Center for Mendelian GenomicsSureni V. MullegamaHarry PachajoaGloria L. Porras-HurtadoRhonda E. SchnurJennie SleeSteven L. SingerDavid A. StaffenbergAndrew E. TimmsCheryl A. WiseIgnacio ZaranteJean-Pierre Saint-JeannetDaniela V. LuquettiNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Andrew T. Timberlake Casey Griffin Carrie L. Heike Anne V. Hing Michael L. Cunningham David Chitayat Mark R. Davis Soghra J. Doust Amelia F. Drake Milagros M. Duenas-Roque Jack Goldblatt Jonas A. Gustafson Paula Hurtado-Villa Alexis Johns Natalya Karp Nigel G. Laing Leanne Magee University of Washington Center for Mendelian Genomics Sureni V. Mullegama Harry Pachajoa Gloria L. Porras-Hurtado Rhonda E. Schnur Jennie Slee Steven L. Singer David A. Staffenberg Andrew E. Timms Cheryl A. Wise Ignacio Zarante Jean-Pierre Saint-Jeannet Daniela V. Luquetti Haploinsufficiency of SF3B2 causes craniofacial microsomia
description	Despite being a common congenital facial anomaly, the genetic etiology of craniofacial microsomia (CFM) is not well understood. Here, the authors use exome and genome sequencing of 146 individuals with CFM to identify haploinsufficient variants in SF3B2 as a prevalent underlying cause.
format	article
author	Andrew T. Timberlake Casey Griffin Carrie L. Heike Anne V. Hing Michael L. Cunningham David Chitayat Mark R. Davis Soghra J. Doust Amelia F. Drake Milagros M. Duenas-Roque Jack Goldblatt Jonas A. Gustafson Paula Hurtado-Villa Alexis Johns Natalya Karp Nigel G. Laing Leanne Magee University of Washington Center for Mendelian Genomics Sureni V. Mullegama Harry Pachajoa Gloria L. Porras-Hurtado Rhonda E. Schnur Jennie Slee Steven L. Singer David A. Staffenberg Andrew E. Timms Cheryl A. Wise Ignacio Zarante Jean-Pierre Saint-Jeannet Daniela V. Luquetti
author_facet	Andrew T. Timberlake Casey Griffin Carrie L. Heike Anne V. Hing Michael L. Cunningham David Chitayat Mark R. Davis Soghra J. Doust Amelia F. Drake Milagros M. Duenas-Roque Jack Goldblatt Jonas A. Gustafson Paula Hurtado-Villa Alexis Johns Natalya Karp Nigel G. Laing Leanne Magee University of Washington Center for Mendelian Genomics Sureni V. Mullegama Harry Pachajoa Gloria L. Porras-Hurtado Rhonda E. Schnur Jennie Slee Steven L. Singer David A. Staffenberg Andrew E. Timms Cheryl A. Wise Ignacio Zarante Jean-Pierre Saint-Jeannet Daniela V. Luquetti
author_sort	Andrew T. Timberlake
title	Haploinsufficiency of SF3B2 causes craniofacial microsomia
title_short	Haploinsufficiency of SF3B2 causes craniofacial microsomia
title_full	Haploinsufficiency of SF3B2 causes craniofacial microsomia
title_fullStr	Haploinsufficiency of SF3B2 causes craniofacial microsomia
title_full_unstemmed	Haploinsufficiency of SF3B2 causes craniofacial microsomia
title_sort	haploinsufficiency of sf3b2 causes craniofacial microsomia
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/d765e285eeb1444f96c9860e6bc243dd
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Haploinsufficiency of SF3B2 causes craniofacial microsomia

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