Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43)

Eye
F U MusaC E Willoughby

Abstract

To characterize the ophthalmic findings, intrafamilial variability, and molecular genetic basis of oculodentodigital dysplasia (ODDD; MIM no. 164200). Ophthalmic examination included best-corrected visual acuity, slit-lamp biomicroscopy, direct and indirect ophthalmoscopy, Goldmann applanation tonometry and A-scan ultrasonography. Blood samples were taken for DNA extraction and mutation screening of GJA1 (connexin 43). All three affected individuals had characteristic features of ODDD. The ophthalmic features were epicanthus, microcornea, and the presence of glaucoma. The ocular phenotype resulted from a heterozygous T>C transition at nucleotide 338 in GJA1 (L113P) that was not detected in 120 chromosomes of unaffected individuals. The L113P mutation results in a nonconservative substitution in the cytoplasmic loop of Cx43 (GJA1) and is predicted to disrupt the high-order structure of Cx43. This report describes the ocular phenotype in a molecularly characterized ODDD syndrome family. The ocular features in this family highlight the key role Cx43 plays in eye development and in the development of glaucoma. L113P represents a pathogenic mutation in GJA1 (Cx43) and results in ODDD with marked intrafamilial variation in glaucoma t...Continue Reading

References

Jul 1, 1978·American Journal of Ophthalmology·H S Sugar
Mar 15, 1990·American Journal of Ophthalmology·E I Traboulsi, M M Parks
Nov 1, 1989·Archives of Ophthalmology·A H WeissJ Longbottom
Aug 1, 1993·Journal of Medical Genetics·M Warburg
May 15, 1996·European Journal of Biochemistry·R BruzzoneD L Paul
Jan 1, 1997·Human Molecular Genetics·A GladwinM Dixon
Dec 23, 1998·Trends in Cell Biology·A M Simon, D A Goodenough
Apr 17, 1999·American Journal of Human Genetics·D MackayS Bhattacharya
Apr 7, 2000·Brain Research. Brain Research Reviews·D I Vaney, R Weiler
Oct 4, 2000·Nature Genetics·J LamartineG Waksman
Mar 26, 2002·American Journal of Human Genetics·Gabriele RichardLaura Russell
May 17, 2002·Human Molecular Genetics·Douglas B Gould, Simon W M John
Feb 20, 2004·Human Mutation·Antonio PizzutiBruno Dallapiccola
Apr 27, 2004·American Journal of Medical Genetics. Part a·Klaus W KjaerNiels Tommerup
Nov 9, 2004·Survey of Ophthalmology·Hélène Dollfus, Alain Verloes
Nov 20, 2004·American Journal of Medical Genetics. Part a·M A M van SteenselM van Geel
Jan 8, 2005·American Journal of Medical Genetics. Part a·C VitielloS Banfi

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Citations

Jul 20, 2012·Molecular Biology of the Cell·Qing ShaoDale W Laird
Oct 3, 2012·PloS One·Sarah F JanssenArthur A B Bergen
Feb 24, 2016·Clinics in Dermatology·Melinda Jen, Sudha Nallasamy
Sep 16, 2010·European Journal of Clinical Investigation·Anna PfennigerBrenda R Kwak
May 17, 2013·International Journal of Dermatology·Lyubov AvshalumovaAngie Koriakos
Aug 30, 2011·Biochimica Et Biophysica Acta·Charles K Abrams, Steven S Scherer
May 28, 2016·BMC Cell Biology·Isaac E GarcíaAgustín D Martínez
May 28, 2016·BMC Cell Biology·Lilian I PlotkinJoelle Amedee
Aug 13, 2011·Current Opinion in Ophthalmology·Anya A Trumler
Apr 23, 2020·Case Reports in Ophthalmological Medicine·Virang KumarArti Pandya
Oct 8, 2015·Journal of Alzheimer's Disease : JAD·Gemma TumminelliAntonio Federico
Oct 6, 2015·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Rajeswari BanerjiRobert V Skibbens
Mar 20, 2010·Current Opinion in Pediatrics

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