Retinal miRNAs variations in a large cohort of inherited retinal disease

<p><b>Background</b>: Although great efforts have been paid on identification of genetic predisposition in the inherited retinal disease (IRD), genetic causes of a large proportion of patients remain a mystery. This dilemma makes us attempt to speculate that genetic components other than coding genes might be an additional pool predisposing IRD. In this study, we aim to perform a mutational screening in a large cohort of IRD patients with a particular focus on retina-specific or abundant microRNAs (miRs).</p> <p><b>Material and methods</b>: A total of 324 unrelated patients with IRD were recruited. Targeted next-generation sequencing (tNGS) was performed to survey genetic mutations in 32 known miRs highly expressed in the retina, followed by validation with Sanger sequencing, co-segregation analysis in each family, and computational assessments.</p> <p><b>Results</b>: Novel genotype-phenotype associations have been uncovered. In total, six different variants in the miRs were identified, including four rare ones, miR-216a (n.56C>A), miR-216b (n.43_44insG), miR-7–2 (n.107C>T), and miR-7–3 (n.95G>A). The other two variants, miR-182 (n.106G>A) and miR-216a (n.105T>A), were considered as polymorphic.</p> <p><b>Conclusions</b>: We for the first time screened candidate retinal miRs in patients with IRD. Although there is no convincing evidence that these variants are responsible for the IRD, the results enhance the current knowledge of the associations between IRD and miRNAs variants.</p

Ureteropelvic anastomosis.

<p>Anastomosis was completed using 4-0 Vicryl (Ethicon) sutures.</p

Aspiration of irrigant.

<p>The irrigant was aspirated by the suction probe placed just below the pyelotomy through the other laparoscopic port.</p

Performance of pyelotomy.

<p>A pyelotomy was preformed with appropriate length (about 4 mm) to achieve the pyeloplasty.</p

Port-placement for transperitoneal mini-laparoscopic pyeloplasty.

<p>A 5-mm port was placed infraumbilically for the camera (A) and one 5-mm port and one 3-mm port in the midclavicular line ipsilaterally (B and C). (right side).</p

Renal caliceal calculus.

<p>Intracorporeal lithotripsy was performed and the calculus was flushed out.</p

Introduction of rigid ureteroscopy.

<p>A 7.5F rigid ureteroscopy was introduced through the catheter sheath into the plevis.</p