Long-Term Follow-Up of a Case with Dyskeratosis Congenita Caused by NHP2-V126M/X154R Mutation: Genotype-Phenotype Association

Acta Haematol. 2019;141(1):28-31. doi: 10.1159/000494421. Epub 2018 Nov 23.


Dyskeratosis congenita (DC) is a rare inherited syndrome characterized by classical mucocutaneous features and the presence of other clinical features including bone marrow failure, pulmonary fibrosis, liver cirrhosis, and a predisposition to cancer. The symptoms develop at various ages and may manifest over time. Gene mutations associated with DC, such as DC1, TERC, TERT, TINF2, NHP2, NOP10, ACD, CTC1, NAF1, PARN, POT1, RTEL1, STN1, and WRAP53, have been identified in about 70% of patients. Since the number of patients with DC is small and the effect of genetic pathogenic variant may affect the phenotype, we wanted to present the clinical features and course of illness in a patient with NHP2 gene mutation (compound heterozygote for the NHP2 mutations c.376G>A/c.460T>A; amino acid substitutions: p.Val126Met and p.X154Arg) that occurred as a compound heterozygous state.

Keywords: Bone marrow failure; Dyskeratosis congenita; NHP2 mutation.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Dyskeratosis Congenita / diagnosis*
  • Dyskeratosis Congenita / genetics
  • Follow-Up Studies
  • Genetic Association Studies*
  • Humans
  • Male
  • Neutrophils / cytology
  • Neutrophils / immunology
  • Nuclear Proteins / genetics*
  • Polymorphism, Single Nucleotide
  • Ribonucleoproteins, Small Nuclear / genetics*
  • Skin Pigmentation


  • NHP2 protein, human
  • Nuclear Proteins
  • Ribonucleoproteins, Small Nuclear