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An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO

Dhanya L Narayanan1, Anju Shukla1, Neethukrishna Kausthubham1

  • 1Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

American Journal of Medical Genetics. Part A
|June 29, 2019
PubMed

Insights

Genetic variants in NEPRO cause a rare skeletal dysplasia, a type of ribosomopathy. This study identifies NEPRO variants linked to skeletal abnormalities, expanding our understanding of these growth disorders.

Area of Science:

  • Genetics
  • Molecular Biology
  • Skeletal Dysplasias

Background:

  • Cartilage hair hypoplasia (CHH) and related disorders are metaphyseal dysplasias linked to the RNAse-MRP complex.
  • NEPRO (C3orf17) protein interacts with RNAse-MRP subunits, suggesting a role in ribosomal biogenesis.

Observation:

  • A 6-year-old girl presented with skeletal dysplasia and CHH-like features, but lacked variants in RMRP and POP1.
  • Exome sequencing identified a biallelic NEPRO variant (c.435G>C, p.(Leu145Phe)) in the proband.
  • Literature review revealed two families with four individuals exhibiting skeletal dysplasia and a homozygous NEPRO variant (c.280C>T, p.(Arg94Cys)).

Findings:

  • All five affected individuals presented with severe short stature, brachydactyly, skin laxity, joint hypermobility, and dislocations.
  • Radiographic findings included short metacarpals, broad middle phalanges, and metaphyseal irregularities.
  • Protein modeling indicated that the NEPRO variants, located in the same protein domain, result in decreased protein stability.

Implications:

  • This study identifies NEPRO as a novel gene associated with ribosomopathies and skeletal dysplasia.
  • The findings expand the genetic basis of metaphyseal dysplasias.
  • Understanding NEPRO's role in ribosomal biogenesis and skeletal development is crucial for diagnosing and potentially treating these rare conditions.
Keywords:
NEPRORMRPcartilage hair hypoplasiametaphyseal dysplasiaribosomal biogenesis

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