. Author manuscript; available in PMC: 2013 Aug 5.

Published in final edited form as: Blood Rev. 2010 Apr 24;24(3):101–122. doi: 10.1016/j.blre.2010.03.002

Table 4.

Mutated Genes in the Major IBMFS

B) Dyskeratosis Congenita^*

Gene	Locus	Mutations	~% of Patients	Genetics
DKC1	Xq28	~40	35%	XLR
TINF2	14q11.2	~15	10–20%	AD
TERC	3q26.3	~5	10%	AD, AR
TERT	5p15.53	~10	5%	AD, AR
NOP10/NOLA3	15q14-q15	1	<1%	AR
NHP2/NOLA2	5q35.5	1	<1%	AR

Savage et al³⁶