Case Report
Copyright ©The Author(s) 2022.
World J Clin Cases. Nov 26, 2022; 10(33): 12440-12446
Published online Nov 26, 2022. doi: 10.12998/wjcc.v10.i33.12440
Table 1 Genetic spectrum of dyskeratosis congenita[1,3]
Inheritence pattern
Frequency, %
Main mutation types
DKC1Xq28XLRApproximately 25Missense
TINF214q12ADApproximately 12Missense
TERC3q26ADApproximately 5Point and deletions
TERT5p15AD, ARApproximately 5Missense
USB116q21ARApproximately 2Frameshift and nonsense
RTEL120q13AR, ADApproximately 2Missense
CTC117p13ARApproximately 1Missense and frameshift
NHP25q35AR< 1Missense
NOP1015q14AR< 1Missense
WRAP5317p13AR< 1Missense
ACD16q22AD, AR< 1Missense and frameshift
PARN16p13AR, AD< 1Frameshift