Nature Communications (Aug 2021)
Haploinsufficiency of SF3B2 causes craniofacial microsomia
- 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
Affiliations
- Andrew T. Timberlake
- Hansjorg Wyss Department of Plastic and Reconstructive Surgery, NYU Langone Medical Center
- Casey Griffin
- Department of Molecular Pathobiology, New York University College of Dentistry
- Carrie L. Heike
- Department of Pediatrics, Division of Craniofacial Medicine, University of Washington
- Anne V. Hing
- Department of Pediatrics, Division of Craniofacial Medicine, University of Washington
- Michael L. Cunningham
- Department of Pediatrics, Division of Craniofacial Medicine, University of Washington
- David Chitayat
- Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto
- Mark R. Davis
- Department of Diagnostic Genomics, Path West Laboratory Medicine, QEII Medical Centre, Hospital Avenue
- Soghra J. Doust
- Genetics Program, Peterborough Regional Health Centre
- Amelia F. Drake
- Department of Otolaryngology/Head and Neck Surgery, University of North Carolina
- Milagros M. Duenas-Roque
- Hospital Edgardo Rebagliati Martins
- Jack Goldblatt
- Genetic Services of Western Australia, King Edward Memorial Hospital
- Jonas A. Gustafson
- Department of Pediatrics, Division of Craniofacial Medicine, University of Washington
- Paula Hurtado-Villa
- Pontificia Universidad Javeriana and Centro Médico Imbanaco
- Alexis Johns
- Division of Plastic and Maxillofacial Surgery, Children’s Hospital Los Angeles
- Natalya Karp
- Department of Pediatrics, London Health Sciences Centre, Division of Medical Genetics, Western University
- Nigel G. Laing
- Neurogenetic Diseases Group, Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia
- Leanne Magee
- Division of Plastic and Reconstructive Surgery, Children’s Hospital of Philadelphia
- University of Washington Center for Mendelian Genomics
- Sureni V. Mullegama
- GeneDx
- Harry Pachajoa
- Universidad Icesi and Fundacion Clinica Valle del Lili
- Gloria L. Porras-Hurtado
- Clinica Comfamiliar Risaralda
- Rhonda E. Schnur
- GeneDx
- Jennie Slee
- Genetic Services of Western Australia, King Edward Memorial Hospital
- Steven L. Singer
- Perth Children’s Hospital
- David A. Staffenberg
- Hansjorg Wyss Department of Plastic and Reconstructive Surgery, NYU Langone Medical Center
- Andrew E. Timms
- Center for Developmental Biology and Regenerative Medicine, Seattle Children’s Research Institute
- Cheryl A. Wise
- Department of Diagnostic Genomics, Path West Laboratory Medicine, QEII Medical Centre, Hospital Avenue
- Ignacio Zarante
- Human Genomics Institute, Pontificia Universidad Javeriana
- Jean-Pierre Saint-Jeannet
- Department of Molecular Pathobiology, New York University College of Dentistry
- Daniela V. Luquetti
- Department of Pediatrics, Division of Craniofacial Medicine, University of Washington
- DOI
- https://doi.org/10.1038/s41467-021-24852-9
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 11
Abstract
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.
