Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene

American Journal of Ophthalmology
W L AlwardJ C Murray

Abstract

To determine whether autosomal dominant iris hypoplasia is caused by mutations in the newly described gene for Rieger syndrome (RIEG/PITX2). Mutation screening and sequence analysis was performed in a single family. A novel mutation in the RIEG/PITX2 gene was found in all affected but no unaffected individuals. This mutation would be expected to result in an arginine to tryptophan amino acid change in the homeodomain of solurshin, the RIEG/ITX2 gene product. Autosomal dominant iris hypoplasia is caused by a defect in the same gene that is defective in many cases of Rieger syndrome.

References

May 1, 1974·The British Journal of Ophthalmology·J P Martin, E C Zorab
Jun 15, 1994·American Journal of Ophthalmology·P R Lichter

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Citations

Mar 18, 1999·Ophthalmology·A T GaschM Kaiser-Kupfer
Jun 9, 1998·Human Molecular Genetics·D VollrathJ E Richards
Mar 5, 2003·American Journal of Ophthalmology·Robert A HonkanenWallace L M Alward
Oct 22, 2008·International Ophthalmology Clinics·Pratap Challa
Jun 11, 2009·European Journal of Human Genetics : EJHG·Zeynep Tümer, Daniella Bach-Holm
Mar 5, 2004·Survey of Ophthalmology·Ian M MacDonaldMaria A Musarella
Apr 3, 1999·Clinical Genetics·J S Friedman, M A Walter
Jun 24, 2004·Nature Reviews. Genetics·Abigail Tucker, Paul Sharpe
Sep 27, 2000·American Journal of Ophthalmology·W L Alward
Feb 2, 2011·Human Molecular Genetics·Moulinath AcharyaMichael A Walter
Dec 12, 2012·Survey of Ophthalmology·Gerassimos LascaratosDavid F Garway-Heath
Jan 4, 2006·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Faisal IdreesJane C Sowden
Aug 2, 2006·Journal of Neuroendocrinology·M H QuentienA Enjalbert
Jul 12, 2011·American Journal of Medical Genetics. Part a·Jill A RosenfeldLisa G Shaffer
Oct 19, 2016·Acta Ophthalmologica·Morteza SeifiMichael A Walter
Sep 24, 2015·Human Mutation·Xibo ZhangLing Yu
Jan 5, 2002·American Journal of Human Genetics·Andrea L VincentElise Héon
Oct 10, 2015·BioMed Research International·Solmaz AbdolrahimzadehSanti Maria Recupero
Oct 10, 2013·American Journal of Medical Genetics. Part a·Anuradha GaneshAlex V Levin
Apr 25, 2015·Survey of Ophthalmology·Lance P DoucetteMichael A Walter
Nov 19, 2004·American Journal of Human Genetics·Dirk A Kleinjan, Veronica van Heyningen
May 7, 2016·PloS One·Markus H KuehnGillian J McLellan
Oct 23, 2001·Human Mutation·A V D'EliaG Damante
Dec 18, 2001·American Journal of Medical Genetics·B Parkin, C Law
Apr 17, 2004·International Ophthalmology Clinics·Pratap Challa
Jul 19, 2002·American Journal of Medical Genetics·Donna M MartinSally A Camper
Jun 17, 2010·Circulation. Arrhythmia and Electrophysiology·Steven A LubitzPatrick T Ellinor
Jan 1, 2014·Human Genome Variation·Masashi KimuraMitsuko Nakashima
Aug 14, 2002·Annals of Medicine·Lisa J CushmanSimon J Rhodes

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