Table 2.
Characteristics of patients with TINF2 mutations
| DCRno. | Diagnosis | Age, y/sex | Nail dystrophy | Skin abnormality | Leukoplakia | Other features | AA | Hb, g/L | WBC, ×109/L | Platelets, ×109/L | Base change* | Amino acid change |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 45 | DC/HH/RS | 1/M | + | − | − | Retinopathy, intercranial calcification | + | NA | NA | NA | c.838A>T | Lys280X |
| 282 | HH/RS | 3/M | + | − | + | Microcephaly, short stature, retinopathy, intracerebral calcifications, BMT age 3 y | + | 95 | 1.3 | 15 | c.838A>T | Lys280X |
| 19 I1 | DC | 37/M | + | + | + | Bronchitis | + | 129 | 8.1 | 142 | c.844C>T | Arg282Cys |
| II2 | AA | 4/F | − | − | − | + | 87 | 3.1 | 26 | c.844C>T | Arg282Cys | |
| II3 | AA | 7/NA | − | − | − | + | NA | NA | NA | c.844C>T | Arg282Cys | |
| 24 I1 | DC | 24/M | + | − | + | Post-BMT lung disease, died 36 y | + | NA | NA | NA | c.844C>T | Arg282Cys |
| I2 | DC | 2/F | + | − | − | Died AA 9 y | + | NA | NA | NA | NA | NA |
| 36 | DC | 12/M | + | + | − | No family history | + | 58 | 8.2 | 40 | c.844C>T | Arg282Cys |
| 139 | DC | 9/F | + | − | − | Short, fine hair, lacrimal duct stenosis | + | 100 | 2.3 | 15 | c.844C>T | Arg282Cys |
| 181 | DC | 41/M | + | − | − | Pulmonary fibrosis, squamous Ca, alopecia | − | 1250 | 10.8 | 106 | c.844C>T | Arg282Cys |
| 189 | DC | 11/M | + | + | − | Short stature | + | 125 | 5.4 | 30 | c.844C>T | Arg282Cys |
| 195 | DC | 14/M | + | + | + | Osteoporosis, SAA-BMT age 5 y | + | NA | NA | NA | c.844C>T | Arg282Cys |
| 18 | DC | NA/M | NA | NA | NA | DC with AA | + | NA | NA | NA | c.845G>A | Arg282His |
| 40 | DC | 13/M | + | + | − | Phimosis, osteoporosis | + | 113 | 3.9 | 8 | c.845G>A | Arg282His |
| 54 | DC | NA/M | + | ? | ? | + | NA | NA | NA | c.845G>A | Arg282His | |
| 85 | DC | 4/M | + | − | − | AA–transfusion dependent | + | NA | NA | NA | c.845G>A | Arg282His |
| 90 | DC/HH/RS | 3/M | + | − | − | Retinopathy, deaf, microcephaly, learning problems | + | 87 | 4.1 | 14 | c.845G>A | Arg282His |
| 95 | DC | 4/M | + | + | + | Epiphora, osteoporosis | + | 73 | 1.5 | 20 | c.845G>A | Arg282His |
| 130 | DC/RS | 4/M | + | + | + | Retinopathy, heart defect, SAA | + | 75 | 1.3 | 24 | c.845G>A | Arg282His |
| 220 | DC | 9/F | + | + | + | Hair loss, osteoporosis, BMT age 1 y for SAA | + | 72 | NA | 19 | c.845G>A | Arg282His |
| 250 | DC | 7/M | + | − | + | Thin skin on trunk | + | 95 | 2.1 | 20 | c.845G>A | Arg282His |
| 253 | HH | 2/F | − | − | + | Microcephaly, cerebellar hypoplasia, developmental delay, low NK cells | + | 107 | 4.3 | 15 | c.845G>A | Arg282His |
| 258 | DC | 5/M | + | + | + | Epiphora, hyperhiderosis, undescended testes | + | 85 | 2.4 | 36 | c.845G>A | Arg282His |
| 265 | HH | 1/F | − | − | + | Developmental delay, cerebellar atrophy, hypotonia, short stature | + | 80 | 0.5-1.0 | <10 | c.845G>A | Arg282His |
| 269 | DC | 5/M | + | − | − | Alopecia, dental loss, short stature, skeletal defects | + | 105 | 3.8 | 25 | c.845G>A | Arg282His |
| 283 | DC | 4/M | + | + | + | Alopecia, osteoporosis, BMT for SAA | + | 60 | 3.4 | 2.0 | c.845G>A | Arg282His |
| 126 | DC/HH | 4/M | + | − | + | Ataxia, BMT age 4 y, pulmonary disease after BMT | + | 86 | 5.0 | 10 | c.847C>T | Pro283Ser |
| 211 | DC | 9/F | + | + | + | Alopecia, hyperhiderosis, dental loss, short stature, BMT age 3 y | + | 86 | 4.7 | 28 | c.847C>G | Pro283Ala |
| 276 | DC | 2/M | + | + | − | AA at age 1 y | + | 93 | 1.3 | 10 | c.848C>A | Pro283His |
| 89 | DC | 6/M | + | + | + | Response to oxymetholone | + | 106 | 3.9 | 10 | c.850A>G | Thr284Ala |
| 273 | DC/AA | 4/M | + | + | − | AA at age 1 y | + | 105 | 3.5 | 30 | c.849 850insC | Thr284HisfsX8 |
| 206 | DC | 10/F | + | + | − | Osteoporosis, BMT for SAA at 6 y | + | 120 | <2 | 20 | c.860T>C | Leu287Pro |
| 69 | DC | 12/M | + | + | + | DC with SAA | + | 114 | 3.9 | 12 | c.865 866 delinsAG | Pro289Ser |
| 133 | DC | 7/M | − | + | + | Microcephaly, short stature, learning difficulties | + | 70 | 2.0 | 10 | c.867 868insC | Phe290LeufsX2 |
| 94 | DC | 29/F | + | + | + | DC with AA, therapy with androgens | + | 72 | 2.21 | 39 | c.871A>G | Arg291Gly |
| 14 | DC | 15/F | + | + | + | Lacrimal duct stenosis, BMT for SAA age 11 y | + | 71 | 2.3 | 10 | c.892delC | Gln298Arg fsX19 |
| Non-DCR patients | ||||||||||||
| 1293 | AA | 4/M | − | − | − | AA at age 3 y | + | 82 | 6.1 | 26 | c.706C>T | Pro236Ser |
| 1771 | AA | 50/M | − | − | − | AA age 50 y | + | NA | NA | NA | c.734C>A | Ser245Tyr |
| 14433 | Low WBC | 40/M | − | − | − | Low WBC at age ∼30 y | + | 154 | 2.7 | 194 | c.841G>A | Glu281Lys |
Age indicates age when sample was obtained; BMT, bone marrow transplantation; Ca, carcinoma; DCR no., Dyskeratosis Congenita Registry number; F, female; Hb, hemoglobin; M, male; NA, not available; NK, natural killer cells; SAA, severe AA; WBC, white blood cells; +, present; −, absent; and ?, diagnosis unclear.
*
Nomenclature as recommended by the Human Genome Variation Society (http://www.hgvs.org/rec.html).