Table 1  Common Features of Individuals with Biallelic RTEL1 Mutations
Families from the Dyskeratosis Congenita Registry
129   093   103 a   237   302   303   333
II-1   II-3   II-1   II-3   II-2   II-3   II-4   II-5   II-1   II-3   II-2   II-1
Mutation(s)  NA  c.2288G>T (p.Gly763Val)  c.2964T>G (p.Phe988Leu) (homozygous)  c.1548G>T (p.Met516Ile)  NA  c.102+2T>C (splice site)c  c.2201T>G (p.Leu734Arg)  c.1263+3A>G (p.del422_446)  c.823G>A (p.Glu275Lys)
c.3791G>A (p.Arg1264His)b  c.2992C>T (p.Arg998Ter)  c.2941C>T (p.Arg981Trp)  c.2761A>G (p.Lys921Glu)  c.2941C>T (p.Arg981Trp)  c.2941C>T (p.Arg981Trp)
Gender  male  female  female  male  female  male  female  male  female  female  male  male
Age at report or (death) in years  (3)  8  16  (9)  16  (4)  (11)  (4)  (4)  2  12  6
Global bone-marrow failure  +  +  +  +  +  +  +  +  +  +  +  +
Immunodeficiency  +  +  −  unknown  +  +  +  +  +  +  +/−  −
Cerebellar hypoplasia  +  −  −  +  +  +  +  +  +  +  +  +
Microcephaly  +  −  −  +  +  +  +  +  +  +  +  −
IUGR  +  −  −  +  +  +  +  +  +  +  +  −
Growth retardation  +  −  −  +  −  +  +  +  +  +  +  +
Developmental delay  +  −  −  +  −  +  +  +  −  +  +  +
Abnormal skin pigmentation  −  −  −  −  −  −  −  −  −  −  −  −
Nail dystrophy  −  −  +/−  −  +  −  +  −  −  +  +  −
Leukoplakia  −  −  +  −  +/−  −  +  −  −  +  −  +
Other features  −  −  −  hypogonadism  −  −  −  −  −  esophageal web and enteropathy  dysphagia  abnormal facies and intracranial calcification
Increased chromosomal breakage with DEB and/or MMC  −  −  unknown  −  −  −  −  −  −  −  unknown  −
The following abbreviations are used: IUGR, intrauterine growth restriction; DEB, diepoxybutane; MMC, mitomycin C; +, present feature; –, absent feature; +/−, some suggestion that feature is present; and NA, sample not available for analysis.
a  Family previously published.12
b  Mutation and predicted protein change were called from the alternative splice variant uc021wge.1.
c  Predicted to affect splicing.