Novel TINF2 gene mutation in dyskeratosis congenita with extremely short telomeres: A case report

Table 1 Genetic spectrum of dyskeratosis congenita[1,3]

Gene	Chromosome	Inheritence pattern	Frequency, %	Main mutation types
DKC1	Xq28	XLR	Approximately 25	Missense
TINF2	14q12	AD	Approximately 12	Missense
TERC	3q26	AD	Approximately 5	Point and deletions
TERT	5p15	AD, AR	Approximately 5	Missense
USB1	16q21	AR	Approximately 2	Frameshift and nonsense
RTEL1	20q13	AR, AD	Approximately 2	Missense
CTC1	17p13	AR	Approximately 1	Missense and frameshift
NHP2	5q35	AR	< 1	Missense
NOP10	15q14	AR	< 1	Missense
WRAP53	17p13	AR	< 1	Missense
ACD	16q22	AD, AR	< 1	Missense and frameshift
PARN	16p13	AR, AD	< 1	Frameshift

XLR: X-linked recessive; AD: Autosomal dominant; AR: Autosomal recessive.