MSX1 and hypodontia, orofacial clefting and the Witkop syndrome

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review


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 languageEnglish
Title of host publicationEpstein's Inborn Errors of Development
Subtitle of host publicationThe Molecular Basis of Clinical Disorders of Morphogenesis
EditorsRobert P. Erickson, Anthony J. Wynshaw-Boris
PublisherOxford University Press
EditionThird edition
ISBN (Print)9780199934522
Publication statusPublished - 2016

Publication series

NameOxford Monographs on Medical Genetics


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