Clinical summary of patients with <i>FAM161A</i> mutations associated with retinitis pigmentosa.

a<p>Visual Acuity: best corrected Snellen visual acuity.</p>b<p>Electroretinograms: full field cone ERG amplitude in microvolts to 30HZ white light (lower norm  = 50 microvolts).</p>c<p>Visual Field: Goldmann total field area to V-4e white test light (lower norm  =  11,399 degrees squared).</p>d<p>Dark adaptation: final threshold in log units above normal after 45 minutes of dark adaptation.</p>e<p>Lens: −, clear lens; +, central posterior subcapsular cataract.</p>f<p>Macula: −, within normal limits; +, granular.</p>g<p>Periphery: bone spicule or clumped pigment in one or more quadrants: +, present; −, absent.</p><p>Abbreviations: F, female; M, male; EO, ethnic origin; OD, right eye; OS, left eye; HM, hand motions; PP, pseudophakia; AS, atrophic scar; NA, not available.</p

Mutation c.1355_6delCA (p.T452SfsX3) produces transcripts with a premature stop codon that are targets for NMD degradation.

<p>The image shows an agarose gel on which six RT-PCR products were run: two from patients 003-161 and 102-001, respectively, one from a control cell line (CTR), and one from the same control cell line, following a cDNA synthesis reaction performed without the addition of the reverse transcriptase enzyme (RT-). Presence of cycloheximide in cell cultures is indicated with "+", its absence with "−". M, DNA molecular size marker; 18S, RT-PCR loading control (18S rRNA); 1000 bp and 250 bp, bands of the marker corresponding to these specific sizes, respectively.</p

Fundus photographs from patient 121–385 (male, 43 years old).

<p>The patient shows the representative phenotype of this mutation with waxy pallor of the optic disc, retinal arteriolar attenuation, granularity of the macula and intra retinal pigment around the midperiphery in a bone spicule or clumped configuration.</p

Schematic representation of alternative splicing events of <i>FAM161A</i> transcripts.

<p>Boxes represent exons, while lines represent splicing events. Coding regions are in black, noncoding regions are white. The canonical forms of <i>FAM161A</i> mRNA are presented in the top panel, as reference. The bottom two panels show newly-discovered splicing isoforms with an alternative 5′UTR in intron 1 (1a).</p

Variants identified in this study.

<p>+, wild-type allele.</p>a<p>http://genetics.bwh.harvard.edu/pph2/.</p>b<p>http://sift.jcvi.org/.</p>c<p>http://mutpred.mutdb.org/</p>d<p>http://mmb2.pcb.ub.es:8080/PMut/.</p