Article
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
American journal of human genetics - 5 Jun 2014
Rainger Joe, Pehlivan Davut, Johansson Stefan, Bengani Hemant, Sanchez-Pulido Luis, Williamson Kathleen A, Ture Mehmet, Barker Heather, Rosendahl Karen, Spranger Jürgen, Horn Denise, Meynert Alison, Floyd James A B, Prescott Trine, Anderson Carl A, Rainger Jacqueline K, Karaca Ender, Gonzaga-Jauregui Claudia, Jhangiani Shalini, Muzny Donna M, Seawright Anne, Soares Dinesh C, Kharbanda Mira, Murday Victoria, Finch Andrew, Gibbs Richard A, van Heyningen Veronica, Taylor Martin S, Yakut Tahsin, Knappskog Per M, Hurles Matthew E, Ponting Chris P, Lupski James R, Houge Gunnar, FitzPatrick David R
Abstract excerpt
We identified four different missense mutations in the single-exon gene MAB21L2 in eight individuals with bilateral eye malformations from five unrelated families via three independent exome sequencing projects. Three mutational events altered the same amino acid (Arg51), and two were identical de novo mutations (c.151C>T [p.Arg51Cys]) in unrelated children with bilateral anophthalmia, intellectual disability,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.