MSX1 and hypodontia, orofacial clefting and the Witkop syndrome

MJH van den Boogaard; JK Ploos van Amstel

doi:10.1093/med/9780199934522.003.0096

MSX1 and hypodontia, orofacial clefting and the Witkop syndrome

MJH van den Boogaard, JK Ploos van Amstel

Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

Abstract

MSX1, a homeobox protein, is crucial for facial and tooth development. MSX1 mutations are reported in patients with selective tooth agenesis (OMIM 106600), patients with Witkop syndrome (tooth–and nail syndrome, OMIM 189500) as well as in nonsyndromic orofacial clefting (OMIM 608874). MSX1 mutations often lead to a large number of congenital missing teeth in which the maxillary and mandibular second premolars, the maxillary first premolar and the third molars are most frequently absent. Significant shape differences of the teeth were reported in a family with a MSX1 mutation associated with different types of clefting in combination with tooth agenesis; the incisors were found to have a more square appearance. Several association studies in different populations and the identification of several MSX1 mutation in patients with isolated orofacial clefting support the role of MSX1 in the etiology of non-syndromic clefting.

Original language	English
Title of host publication	Epstein's Inborn Errors of Development
Subtitle of host publication	The Molecular Basis of Clinical Disorders of Morphogenesis
Editors	Robert P. Erickson, Anthony J. Wynshaw-Boris
Publisher	Oxford University Press
Pages	703-706
Edition	Third edition
ISBN (Print)	9780199934522
DOIs	https://doi.org/10.1093/med/9780199934522.003.0096
Publication status	Published - 2016

Publication series

Name	Oxford Monographs on Medical Genetics

Access to Document

10.1093/med/9780199934522.003.0096

Cite this

van den Boogaard, MJH., & Ploos van Amstel, JK. (2016). MSX1 and hypodontia, orofacial clefting and the Witkop syndrome. In R. P. Erickson, & A. J. Wynshaw-Boris (Eds.), Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis (Third edition ed., pp. 703-706). (Oxford Monographs on Medical Genetics ). Oxford University Press. https://doi.org/10.1093/med/9780199934522.003.0096

van den Boogaard, MJH ; Ploos van Amstel, JK. / MSX1 and hypodontia, orofacial clefting and the Witkop syndrome. Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis. editor / Robert P. Erickson ; Anthony J. Wynshaw-Boris. Third edition. ed. Oxford University Press, 2016. pp. 703-706 (Oxford Monographs on Medical Genetics ).

@inbook{e2fe9976ec91432a8e8953af1ef6fa60,

title = "MSX1 and hypodontia, orofacial clefting and the Witkop syndrome",

abstract = "MSX1, a homeobox protein, is crucial for facial and tooth development. MSX1 mutations are reported in patients with selective tooth agenesis (OMIM 106600), patients with Witkop syndrome (tooth–and nail syndrome, OMIM 189500) as well as in nonsyndromic orofacial clefting (OMIM 608874). MSX1 mutations often lead to a large number of congenital missing teeth in which the maxillary and mandibular second premolars, the maxillary first premolar and the third molars are most frequently absent. Significant shape differences of the teeth were reported in a family with a MSX1 mutation associated with different types of clefting in combination with tooth agenesis; the incisors were found to have a more square appearance. Several association studies in different populations and the identification of several MSX1 mutation in patients with isolated orofacial clefting support the role of MSX1 in the etiology of non-syndromic clefting.",

author = "{van den Boogaard}, MJH and {Ploos van Amstel}, JK",

year = "2016",

doi = "10.1093/med/9780199934522.003.0096",

language = "English",

isbn = "9780199934522",

series = "Oxford Monographs on Medical Genetics ",

publisher = "Oxford University Press",

pages = "703--706",

editor = "Erickson, {Robert P. } and Wynshaw-Boris, {Anthony J. }",

booktitle = "Epstein's Inborn Errors of Development",

address = "United Kingdom",

edition = "Third edition",

}

van den Boogaard, MJH & Ploos van Amstel, JK 2016, MSX1 and hypodontia, orofacial clefting and the Witkop syndrome. in RP Erickson & AJ Wynshaw-Boris (eds), Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis. Third edition edn, Oxford Monographs on Medical Genetics , Oxford University Press, pp. 703-706. https://doi.org/10.1093/med/9780199934522.003.0096

MSX1 and hypodontia, orofacial clefting and the Witkop syndrome. / van den Boogaard, MJH ; Ploos van Amstel, JK.
Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis. ed. / Robert P. Erickson; Anthony J. Wynshaw-Boris. Third edition. ed. Oxford University Press, 2016. p. 703-706 (Oxford Monographs on Medical Genetics ).

Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

TY - CHAP

T1 - MSX1 and hypodontia, orofacial clefting and the Witkop syndrome

AU - van den Boogaard, MJH

AU - Ploos van Amstel, JK

PY - 2016

Y1 - 2016

N2 - MSX1, a homeobox protein, is crucial for facial and tooth development. MSX1 mutations are reported in patients with selective tooth agenesis (OMIM 106600), patients with Witkop syndrome (tooth–and nail syndrome, OMIM 189500) as well as in nonsyndromic orofacial clefting (OMIM 608874). MSX1 mutations often lead to a large number of congenital missing teeth in which the maxillary and mandibular second premolars, the maxillary first premolar and the third molars are most frequently absent. Significant shape differences of the teeth were reported in a family with a MSX1 mutation associated with different types of clefting in combination with tooth agenesis; the incisors were found to have a more square appearance. Several association studies in different populations and the identification of several MSX1 mutation in patients with isolated orofacial clefting support the role of MSX1 in the etiology of non-syndromic clefting.

AB - MSX1, a homeobox protein, is crucial for facial and tooth development. MSX1 mutations are reported in patients with selective tooth agenesis (OMIM 106600), patients with Witkop syndrome (tooth–and nail syndrome, OMIM 189500) as well as in nonsyndromic orofacial clefting (OMIM 608874). MSX1 mutations often lead to a large number of congenital missing teeth in which the maxillary and mandibular second premolars, the maxillary first premolar and the third molars are most frequently absent. Significant shape differences of the teeth were reported in a family with a MSX1 mutation associated with different types of clefting in combination with tooth agenesis; the incisors were found to have a more square appearance. Several association studies in different populations and the identification of several MSX1 mutation in patients with isolated orofacial clefting support the role of MSX1 in the etiology of non-syndromic clefting.

U2 - 10.1093/med/9780199934522.003.0096

DO - 10.1093/med/9780199934522.003.0096

M3 - Chapter

SN - 9780199934522

T3 - Oxford Monographs on Medical Genetics

SP - 703

EP - 706

BT - Epstein's Inborn Errors of Development

A2 - Erickson, Robert P.

A2 - Wynshaw-Boris, Anthony J.

PB - Oxford University Press

ER -

van den Boogaard MJH , Ploos van Amstel JK. MSX1 and hypodontia, orofacial clefting and the Witkop syndrome. In Erickson RP, Wynshaw-Boris AJ, editors, Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis. Third edition ed. Oxford University Press. 2016. p. 703-706. (Oxford Monographs on Medical Genetics ). doi: 10.1093/med/9780199934522.003.0096

MSX1 and hypodontia, orofacial clefting and the Witkop syndrome

Abstract

Publication series

Access to Document

Fingerprint

Cite this