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.

Table 2 Frameshift mutations in TINF2 causing dyskeratosis congenita[10]

Location (GRCh37)	Mutation	Protein change
Chr14:24709067	NM_001099274.3(TINF2):c.1292del (p.Pro431fs)	P431fs
Chr14:24709132	NM_001099274.3(TINF2):c.1227del (p.Leu410fs)	L410fs
Chr14:24709288-24709289	NM_001099274.3(TINF2):c.1202dup (p.Asn401fs)	N401fs
Chr14:24709507-24709508	NM_001099274.3(TINF2):c.1090dup (p.Leu364fs)	L364fs
Chr14:24709627-24709628	NM_001099274.3(TINF2):c.1058dup (p.Glu354fs)	E354fs
Chr14:24709676	NM_001099274.3(TINF2):c.1010del (p.Gly337fs)	G337fs
Chr14:24709794	NM_001099274.3(TINF2):c.892del (p.Gln298fs)	Q298fs
Chr14:24709836-24709837	NM_001099274.3(TINF2):c.849dup (p.Thr284fs)	T284fs
Chr14:24709860	NM_001099274.3(TINF2):c.826del (p.Arg276fs)	R276fs
Chr14:24710080	NM_001099274.3(TINF2):c.606del (p.Glu202fs)	E202fs
Chr14:24710937-24710938	NM_001099274.3(TINF2):c.342_343del (p.Phe114fs)	F114fs
Chr14:24711135-24711136	NM_001099274.3(TINF2):c.257_258del (p.His86fs)	H86fs
Chr14:24711394-24711395	NM_001099274.3(TINF2):c.144_145insTT (p.Val49fs)	V49fs