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

doi:10.12998/wjcc.v10.i33.12440

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World Journal of Clinical Cases

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Clin Cases. Nov 26, 2022; 10(33): 12440-12446
Published online Nov 26, 2022. doi: 10.12998/wjcc.v10.i33.12440

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

Citation: Picos-Cárdenas VJ, Beltrán-Ontiveros SA, Cruz-Ramos JA, Contreras-Gutiérrez JA, Arámbula-Meraz E, Angulo-Rojo C, Guadrón-Llanos AM, Leal-León EA, Cedano-Prieto DM, Meza-Espinoza JP. Novel TINF2 gene mutation in dyskeratosis congenita with extremely short telomeres: A case report. World J Clin Cases 2022; 10(33): 12440-12446
URL: https://www.wjgnet.com/2307-8960/full/v10/i33/12440.htm
DOI: https://dx.doi.org/10.12998/wjcc.v10.i33.12440