{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nNucleolus and neural progenitor protein (NEPRO), encoded by NEPRO (C3orf17), interacts with several protein subunits of the RNAse‐MRP complex—a critical component of the ribosomal biogenesis pathway. This interaction suggests that NEPRO plays an essential role in maintaining proper ribosomal function and cellular homeostasis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nRecent evidence has emerged implicating biallelic variants in NEPRO in a novel ribosomopathy characterized by skeletal dysplasia. Affected individuals carrying variants such as c.435G>C (p.Leu145Phe) and c.280C>T (p.Arg94Cys) present with overlapping clinical features including severe short stature, brachydactyly, metaphyseal irregularities, skin laxity, joint hypermobility, and joint dislocations. In silico protein modeling and stability predictions further indicate that these NEPRO variants compromise protein stability, contributing to the observed phenotype."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nCollectively, these findings underscore NEPRO’s pivotal function within ribosomal biogenesis via its association with RNAse‐MRP components, thereby linking aberrant ribosome assembly to disruptions in skeletal development. This emerging ribosomopathy broadens our understanding of the molecular mechanisms underlying skeletal dysplasias and emphasizes the importance of NEPRO in normal cellular and developmental processes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Dhanya L Narayanan, Anju Shukla, Neethukrishna Kausthubham, et al. "}, {"type": "b", "children": [{"type": "t", "text": "An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.61267"}], "href": "https://doi.org/10.1002/ajmg.a.61267"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31250547"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31250547"}]}]}]}