OTX2 mutations contribute to the otocephaly-dysgnathia complex.

Journal of Medical Genetics
Nicolas ChassaingEthylin Wang Jabs

Abstract

Otocephaly or dysgnathia complex is characterised by mandibular hypoplasia/agenesis, ear anomalies, microstomia, and microglossia; the molecular basis of this developmental defect is largely unknown in humans. This study reports a large family in which two cousins with micro/anophthalmia each gave birth to at least one child with otocephaly, suggesting a genetic relationship between anophthalmia and otocephaly. OTX2, a known microphthalmia locus, was screened in this family and a frameshifting mutation was found. The study subsequently identified in one unrelated otocephalic patient a sporadic OTX2 mutation. Because OTX2 mutations may not be sufficient to cause otocephaly, the study assayed the potential of otx2 to modify craniofacial phenotypes in the context of known otocephaly gene suppression in vivo. It was found that otx2 can interact genetically with pgap1, prrx1, and msx1 to exacerbate mandibular and midline defects during zebrafish development. However, sequencing of these loci in the OTX2-positive families did not unearth likely pathogenic lesions, suggesting further genetic heterogeneity and complexity. Identification of OTX2 involvement in otocephaly/dysgnathia in humans, even if loss of function mutations at this l...Continue Reading

Citations

May 18, 2013·Nature Reviews. Genetics·Sara Huston Katsanis, Nicholas Katsanis
May 13, 2014·PloS One·Dina ZielinskiYaniv Erlich
Nov 16, 2013·Human Molecular Genetics·Clémence BernardJin Woo Kim
Oct 18, 2014·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Linda MahgoubWalter Dobrovolsky
Feb 28, 2013·American Journal of Medical Genetics. Part a·Majed DasoukiDeepak Kamnasaran
May 27, 2014·European Journal of Medical Genetics·Kathleen A Williamson, David R FitzPatrick
Jun 6, 2015·Birth Defects Research. Part C, Embryo Today : Reviews·Linda M Reis, Elena V Semina
Jan 16, 2015·Journal of Human Genetics·Panagiotis I SergouniotisJill Clayton-Smith
Mar 26, 2013·Experimental Eye Research·Francis Beby, Thomas Lamonerie
Jul 6, 2016·American Journal of Medical Genetics. Part a·Xénia LatypovaBertrand Isidor
Oct 19, 2016·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Hye-Jin TakSang-Hwy Lee
Jun 15, 2017·Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution·Bethany A Stahl, Joshua B Gross
Aug 4, 2018·Human Genetics·Florencia CavodeassiHeather C Etchevers
Nov 10, 2016·Endocrine Reviews·Qing FangSally A Camper
Jan 4, 2020·European Journal of Human Genetics : EJHG·Jonathan EintrachtMariya Moosajee
Apr 12, 2020·Human Molecular Genetics·Hironori BandoSally A Camper
Jul 10, 2020·Clinical Oral Investigations·C DubucsJulie Plaisancié
Aug 5, 2017·Scientific Reports·Walid D FakhouriBrian C Schutte
Oct 1, 2018·BMC Medical Genomics·Anna PichiecchioStefano Bastianello
Jan 24, 2020·Acta Veterinaria Scandinavica·Julia Maria ParisCord Drögemüller
Jun 13, 2020·Life Science Alliance·Juliane S MüllerRita Horvath

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Related Papers

The Journal of Clinical Endocrinology and Metabolism
Daniel DiaczokSally Radovick
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
Paul A NorthcottMichael D Taylor
International Journal of Cancer. Journal International Du Cancer
Jens BuntMarcel Kool
American Journal of Human Genetics
Nicola RaggeIsabel M Hanson
© 2021 Meta ULC. All rights reserved