Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia

Autor: Sally Ann Lynch, R. Alex Henderson, Veronica van Heyningen, Isabel M. Hanson, Michael P. Clarke, Sanjay M. Sisodiya, David R. FitzPatrick, Kathy Williamson, Sally Cumming

Publikováno v: European Journal of Human Genetics. 15:898-901

A girl with aniridia, microphthalmia, microcephaly and café au lait macules was found to have mutations in PAX6, NF1 and OTX2. A novel PAX6 missense mutation (p.R38W) was inherited from her mother whose iris phenotype had not been evident because of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55de2520bac727f573d312ea2472fc8e
https://doi.org/10.1038/sj.ejhg.5201826

Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

Autor: Veronica van Heyningen, Michael P. Clarke, Alison Brown, Piers Ruddle, Isabelle Russell-Eggitt, Alison Salt, Isabel M. Hanson, Alistair R. Fielder, R. Alex Henderson, Simon T. Cooper, Jane A. Hurst, Kathleen A Williamson, Juan Pedro Martinez-Barbera, Birgit Lorenz, Dianne Gerrelli, Charlotte M. Poloschek, Sanjay M. Sisodiya, Nicola K. Ragge, David R. FitzPatrick, J. Richard O. Collin, Pamela J. Thompson

Publikováno v: Ragge, N K, Brown, A G, Poloschek, C M, Lorenz, B, Henderson, R A, Clarke, M P, Russell-Eggitt, I, Fielder, A, Gerrelli, D, Martinez-Barbera, J P, Ruddle, P, Hurst, J, Collin, J R O, Salt, A, Cooper, S T, Thompson, P J, Sisodiya, S M, Williamson, K A, Fitzpatrick, D R, van Heyningen, V & Hanson, I M 2005, ' Heterozygous mutations of OTX2 cause severe ocular malformations ', American Journal of Human Genetics, vol. 76, no. 6, pp. 1008-22 . https://doi.org/10.1086/430721

Major malformations of the human eye, including microphthalmia and anophthalmia, are examples of phenotypes that recur in families yet often show no clear Mendelian inheritance pattern. Defining loci by mapping is therefore rarely feasible. Using a c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a19c49e1e2c7a4d18a111f125a53a70
https://europepmc.org/articles/PMC1196439/