A Genetic-Pathophysiological Framework for Craniosynostosis

American Journal of Human Genetics
Stephen R F Twigg, Andrew O M Wilkie

Abstract

Craniosynostosis, the premature fusion of one or more cranial sutures of the skull, provides a paradigm for investigating the interplay of genetic and environmental factors leading to malformation. Over the past 20 years molecular genetic techniques have provided a new approach to dissect the underlying causes; success has mostly come from investigation of clinical samples, and recent advances in high-throughput DNA sequencing have dramatically enhanced the study of the human as the preferred "model organism." In parallel, however, we need a pathogenetic classification to describe the pathways and processes that lead to cranial suture fusion. Given the prenatal onset of most craniosynostosis, investigation of mechanisms requires more conventional model organisms; principally the mouse, because of similarities in cranial suture development. We present a framework for classifying genetic causes of craniosynostosis based on current understanding of cranial suture biology and molecular and developmental pathogenesis. Of note, few pathologies result from complete loss of gene function. Instead, biochemical mechanisms involving haploinsufficiency, dominant gain-of-function and recessive hypomorphic mutations, and an unusual X-linked ...Continue Reading

References

Feb 1, 1995·Nature Genetics·E LajeunieD Renier
Feb 13, 1995·American Journal of Medical Genetics·E LajeunieD Renier
Mar 1, 1995·Human Molecular Genetics·U SchellH Ohashi
Apr 24, 1996·American Journal of Medical Genetics·M M Cohen, S Kreiborg
Jan 1, 1997·Human Molecular Genetics·A O Wilkie
May 16, 1998·Proceedings of the National Academy of Sciences of the United States of America·S C RobertsonD J Donoghue
Feb 11, 1999·American Journal of Human Genetics·M OldridgeA O Wilkie
Jul 23, 1999·Journal of Craniofacial Genetics and Developmental Biology·I M MathijssenJ M Vaandrager
Mar 29, 2001·Proceedings of the National Academy of Sciences of the United States of America·K Yu, D M Ornitz
Mar 29, 2001·Proceedings of the National Academy of Sciences of the United States of America·M K HajihosseiniC Dickson
Jun 8, 2001·Proceedings of the National Academy of Sciences of the United States of America·O A IbrahimiM Mohammadi
Nov 13, 2001·Journal of Neurosurgery·E LajeunieD Renier
Jan 11, 2002·Developmental Biology·Xiaobing JiangGillian M Morriss-Kay
Apr 9, 2002·Genes & Development·Zhonghao LiuDavid M Ornitz
Aug 16, 2003·Developmental Cell·Amelia CompagniRalf H Adams
Mar 20, 2004·Developmental Cell·Peter BialekGerard Karsenty
Mar 24, 2004·Genes & Development·Alice DavyPhilippe Soriano
Apr 3, 2004·Plastic and Reconstructive Surgery·John P ConnollyMichael L Cunningham
May 5, 2004·American Journal of Human Genetics·Ilse WielandPeter Wieacker
May 29, 2004·Proceedings of the National Academy of Sciences of the United States of America·Stephen R F TwiggAndrew O M Wilkie
May 29, 2004·The Journal of Craniofacial Surgery·Mirjam F HoefkensJ Michiel Vaandrager
Aug 19, 2004·Proceedings of the National Academy of Sciences of the United States of America·Veraragavan P EswarakumarPeter Lonai
Jun 9, 2005·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Natalie A SimsT John Martin

❮ Previous
Next ❯

Citations

Mar 24, 2016·Wiley Interdisciplinary Reviews. Developmental Biology·Kevin FlahertyJoan T Richtsmeier
Sep 5, 2015·American Journal of Human Genetics·Stephen R F TwiggAndrew O M Wilkie
Apr 19, 2016·Pharmaceutical Patent Analyst·Hermann Am Mucke
Sep 2, 2016·Database : the Journal of Biological Databases and Curation·Chong ChenShaohua Tang
Oct 1, 2016·ELife·Yoshihiro Komatsu, Yuji Mishina
Oct 8, 2016·Facial Plastic Surgery Clinics of North America·Lisa M Morris
Oct 22, 2016·Birth Defects Research. Part A, Clinical and Molecular Teratology·Emily L DurhamJames J Cray
Dec 14, 2016·PloS One·R Nicole HowieJames J Cray
Nov 20, 2016·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Joanna E Salva, Amy E Merrill
Feb 18, 2017·American Journal of Medical Genetics. Part a·Débora BertolaChong Kim
Apr 14, 2017·American Journal of Medical Genetics. Part a·Toshiki TakenouchiKenjiro Kosaki
Dec 28, 2016·Plastic and Reconstructive Surgery·Myung Chul LeeYong Oock Kim
Apr 15, 2016·Journal of Dental Research·C D HermannZ Schwartz
Nov 26, 2016·Journal of Medical Genetics·Kerry A MillerAndrew O M Wilkie
Jun 27, 2017·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Wei XuXiaolan Du
Jun 22, 2018·Journal of Anatomy·Ronak SandyRoman Hossein Khonsari
Jun 12, 2016·Development·James F BrinkleyYang Chai
Sep 21, 2018·PloS One·James R GilbertGregory M Cooper
Aug 16, 2017·Proceedings of the National Academy of Sciences of the United States of America·Andrew T TimberlakeRichard P Lifton
Aug 30, 2018·Genesis : the Journal of Genetics and Development·James W Ferguson, Radhika P Atit
Oct 26, 2018·The Journal of Craniofacial Surgery·Amanda R SergesketterCarrie R Muh
Mar 14, 2019·Expert Reviews in Molecular Medicine·Angeliki Vogiatzi, George Mavrothalassitis
Feb 26, 2019·Genesis : the Journal of Genetics and Development·Krishnakali Dasgupta, Juhee Jeong
Feb 14, 2019·American Journal of Medical Genetics. Part a·Graeme E GlassLouise C Wilson
May 27, 2016·Journal of Korean Neurosurgical Society·Hiroaki SakamotoKeisuke Imai
Jul 12, 2019·Proceedings of the National Academy of Sciences of the United States of America·Andrew T TimberlakeRichard P Lifton
Jul 30, 2019·American Journal of Medical Genetics. Part a·Elanur YilmazOzgul M Alper
Dec 15, 2019·American Journal of Medical Genetics. Part a·Alexandra TopaLars Kölby
Sep 16, 2017·Current Opinion in Pediatrics·Andrew O M WilkieSteven A Wall
Nov 24, 2017·American Journal of Medical Genetics. Part a·Christine M ClarkeMichael L Cunningham
Jun 9, 2020·Molecular Genetics & Genomic Medicine·Aurora Ibarra-ArceAngélica Olivo-Díaz
Nov 23, 2019·Neurosurgery·Jihoon G YoonYong Oock Kim
Jul 15, 2020·ELife·Md Rakibul HasanDavid Pc Rice
Aug 21, 2020·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Sami LeinonenArja Heliövaara
Jul 28, 2017·The Journal of Experimental Medicine·Tobias SchwerdHolm H Uhlig
Apr 10, 2019·Human Genetics·Katja KlothKerstin Kutsche
Apr 13, 2019·Molecular Syndromology·Justine O'HaraDavid J Dunaway
Aug 1, 2019·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Veronica SalettiLaura Grazia Valentini
Feb 6, 2017·American Journal of Medical Genetics. Part a·Wanda LattanziSimeon A Boyadjiev

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.