Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies
Version of Record online: 23 MAY 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 7, pages 1543–1546, July 2013
How to Cite
2013. Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies. Am J Med Genet Part A 161A:1543–1546., , , , , ., ., , , , , , , .
- Issue online: 19 JUN 2013
- Version of Record online: 23 MAY 2013
- Manuscript Accepted: 9 MAR 2013
- Manuscript Received: 4 JAN 2013
- Ministry of Health, Labor and Welfare of Japan
- Japan Society for the Promotion of Science
- Japan Science and Technology Agency
- Ministry of Education, Culture, Sports, Science and Technology
- Takeda Science Foundation
Additional supporting information may be found in the online version of this article at the publisher's web-site.
|ajmga35983-sm-0001-SupFig-S1.docx||426K||Supplementary FIG. 1. Zebrafish fnbp4 experiments. (A) RT-PCR analysis of fnbp4 confirming expression in the eye and fin tissues (upper panel). The lower panel shows the EF1α control. (B) Schematic representation of the fnbp4 gene. UTR and coding regions are open and filled rectangles, respectively. The corresponding position of MO-1 targeting the splice site of intron 5, the location that is mutated in the patient, is schematically presented. (C) Gross morphology of fnbp4 knockdown embryos at 48 hours post-fertilization. Wild-type embryos (top), splicing blocking MO-injected embryos (MO-1: 5′-CCTCACAATCAAGAACTGACCTGCC-3′) (middle), translation blocking MO-injected embryos (MO-2: 5′-CCTCACAATCAAGAACTGACCTGCC-3′; bottom) are shown. The eye malformation was detectable in embryos injected with MO-1. MO-2-injected embryos showed embryonic lethality with the eye malformation. (D) The quantification of the eye size in wild types and morphants are shown (P < 0.05 for wild-type versus MO-1, MO-2-injected embryos). Eye size in each embryo was quantitated using a selection tool in Adobe Photoshop for a color range that was chosen by 74 and statistical analyses were performed by t-test using Statview version 5.0.|
Table S1. Direct Sequence Genes
Table S2. Homozygous Regions (>1-Mb in Size)
Table S3. Whole-Exome Sequencing Performance
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