NM_022762.5(RMND5B):c.*1767C>T AND Dyskeratosis congenita, autosomal recessive 2

Significance: Pathogenic
ClinVar: RCV000004502

Variant: NM_022762.5(RMND5B):c.*1767C>T

Type: Variant
Allele: NM_022762.5(RMND5B):c.*1767C>T 19320
Type: single nucleotide variant
Location: Chr5: 177576800 - assembly GRCh37
Chr5: 178149799 - assembly GRCh38
References: dbSNP: 121908090
OMIM: 606470.0002
UniProtKB: Q9NX24#VAR_065871


Disease: Dyskeratosis congenita, autosomal recessive 2


    In a 12-year-old Turkish boy with autosomal recessive dyskeratosis congenita-2 (613987), Vulliamy et al. (2008) identified compound heterozygosity for 2 mutations in the NOLA2 gene: a 376G-A transition resulting in a val126-to-met (V126M) substitution, and a 460T-A transversion resulting in ter154-to-arg (X154R; 606470.0003). The X154R substitution is predicted to result in an elongated protein with 51 residues added to the C terminus. The patient had the classical mucocutaneous triad of nail dystrophy, leucoplakia, and reticulate skin pigmentation. He developed peripheral pancytopenia because of progressive bone marrow failure; no other somatic abnormalities were reported. Both unaffected parents were heterozygous for 1 of the mutations. The patient had shortened telomeres and decreased levels of serum TERC (602322) RNA.