RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.

Variants in genes encoding ribosomal proteins have thus far been associated with Diamond-Blackfan anemia, a rare inherited bone marrow failure, and isolated congenital asplenia. Here, we report one de novo missense variant and three de novo splice variants in RPL13, which encodes ribosomal protein RPL13 (also called eL13), in four unrelated individuals with a rare bone dysplasia causing severe short stature. The three splice variants (c.477+1G>T, c.477+1G>A, and c.477+2 T>C) result in partial intron retention, which leads to an 18-amino acid insertion. In contrast to observations from Diamond-Blackfan anemia, we detected no evidence of significant pre-rRNA processing disturbance in cells derived from two affected individuals. Consistently, we showed that the insertion-containing protein is stably expressed and incorporated into 60S subunits similar to the wild-type protein. Erythroid proliferation in culture and ribosome profile on sucrose gradient are modified, suggesting a change in translation dynamics. We also provide evidence that RPL13 is present at high levels in chondrocytes and osteoblasts in mouse growth plates. Taken together, we show that the identified RPL13 variants cause a human ribosomopathy defined by a rare skeletal dysplasia, and we highlight the role of this ribosomal protein in bone development.

Functional and radiological outcome of subtalar arthroereisis for flexible pes planovalgus in children: A retrospective analysis.

INTRODUCTION: Pediatric idiopathic pes planovalgus can correct itself with growth. Otherwise, in the event of functional impairment and after failed conservative treatment, surgery can be considered. Based on a multicenter retrospective study, we report the functional and radiographic results obtained after subtalar arthroereisis. HYPOTHESIS: We hypothesized that this surgery improves functional and radiological parameters in childhood. MATERIAL AND METHOD: Forty-eight medical records of children (78 feet) operated on between 2010 and 2019 were studied. Functional (FAOS score) and radiographic (Djian angle, calcaneal slope, lateral talocalcaneal divergence and calcaneus/M5 alignment, talonavicular coverage measurement, AP talocalcaneal divergence) results were studied. The analysis of these different criteria was carried out between the preoperative period and the last follow-up. RESULTS: The functional outcome was satisfactory with an average FAOS questionnaire score of 95.5 out of 100 total points. All the radiographic parameters studied were significantly improved (p<0.001). The average age at the time of surgery was 11.3 years (range: 7 to 16) with a mean follow-up of 35 months (range: 18 months to 84). Spontaneous screw expulsion and subtalar pain were the main complications found. DISCUSSION: The results obtained are consistent with those in the literature. The age at the time of the surgery is an essential factor to consider with the goal of optimal correction. CONCLUSION: This technique is reliable and effective in the short term. It can be offered as first-line therapy in the management of symptomatic pes planovalgus in children. The follow-up is short, which necessitates longer term studies of this population. The ideal age for surgery remains to be determined. LEVEL OF EVIDENCE: IV.