Table 1.
Characteristics of RTS subjects
| Subject | Age at enrollment (Year, month) | Sex | Pathogenic Variants in RECQL4 | Weight-for -age Z-score | Height-for-age Z-score | WB aBMD Z-score | LS aBMD Z-score | TH aBMD Z-score | FN aBMD Z-score | Fat mass/ Height2 percentile | Lean mass/ Height2 percentile | History of fractures | Number of fracturesa | Age in yrs at first fracture |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 1 Y, 0 m | F | (1) c.1483 + 27_1483 + 37del | −4.5 | −5.0 | NA | NA | NA | NA | NA | NA | – | 0 | NA |
| (2) c.2636del | ||||||||||||||
| 2 | 1 Y, 9 m | F | ND | 1.7 | −0.4 | NA | −2.4 | NA | NA | NA | NA | – | 0 | NA |
| 3 | 1 Y, 10 m | F | (1) c.2269C>T/p.Gln757Ter | −1.9 | −3.4 | NA | NA | NA | NA | NA | NA | – | 0 | NA |
| (2) c.2476C>T/p.Arg826Ter | ||||||||||||||
| 4 | 3 Y, 5 m | F | (1) c.1573del | −4.2 | −3.0 | NA | −2.4 | NA | NA | NA | NA | – | 0 | NA |
| (2) c.3502 + 44_3502 + 96del | ||||||||||||||
| 5 | 4 Y, 1 m | M | (1) c.2719C>T/p.Gln907Ter | −7.3 | −5.0 | NA | −4.6 | −5.1 | −4 | NA | NA | + | 1 | 1 |
| (2) c.2719C>T/p.Gln907Ter | ||||||||||||||
| 6 | 4 Y, 5 m. | M | (1) c.1573del | −0.2 | −0.2 | 0.11 | −1.0 | −1.1 | −0.1 | NA | NA | – | 0 | NA |
| (2) c.2269C>T/p.Gln757Ter | ||||||||||||||
| 7 | 4 Y, 11 m | F | (1) c.3284_3287dupAGCG | 0.9 | 2.1 | NA | NA | NA | NA | NA | NA | – | 0 | NA |
| 8 | 5 Y, 7 m | M | (1) c.118 + 27_118 + 51del | −4.4 | −3.9 | −0.39 | −2.7 | −3.3 | −2.4 | NA | NA | – | 0 | NA |
| (2) c.2886-2A>T | ||||||||||||||
| 9 | 5 Y, 9 m | F | (1) c.2269C>T/p.Gln757Ter | −0.8 | 0.6 | NA | NA | NA | NA | NA | NA | + | 2 | 5 |
| (2) c.2269C>T/p.Gln757Ter | ||||||||||||||
| 10 | 5 Y, 10 m. | F | (1) c.2161C>T/p.Arg721Ter | −1.1 | −1.4 | −1.18 | −2.8 | 0 | 0.1 | NA | NA | + | 1 | 5 |
| (2) c.2269C>T/p.Gln757Ter | ||||||||||||||
| 11 | 5 Y, 11 m | F | ND | −8.1 | −7.7 | −2.32 | −3.0 | −2.9 | −1.5 | NA | NA | – | 0 | NA |
| 12 | 6 Y, 6 m | M | (1) c.1573del | −1.6 | −3.1 | −1.33 | −2.4 | −2.6 | −2 | NA | NA | + | 2 | 3 |
| (2) c.1878 + 32_1878 + 55del | ||||||||||||||
| 13 | 8 Y, 1, | M | (1) c.2269C>T/p.Gln757Ter | −4.9 | −4.1 | NA | NA | NA | NA | NA | NA | – | 0 | NA |
| (2) c.2662C>T/p.Gln888Ter | ||||||||||||||
| 14 | 8 Y, 5 m | F | ND | −3.6 | −3.4 | −1.31 | −1.2 | −1.3 | −0.7 | 14 | 5 | + | 2 | <1 |
| 15 | 8 Y, 8 m | F | (1) c.1015_1016insC | −3.4 | −3.0 | NA | NA | NA | NA | NA | NA | – | 0 | NA |
| (2) c.2269C>T/p.Gln757Ter | ||||||||||||||
| 16 | 8 Y, 11 m | M | (1) c.2269C>T/p.Gln757Ter | 2.8 | 2.3 | NA | NA | NA | NA | NA | NA | + | 1 | 3 |
| (2) c.2269C>T/p.Gln757Ter | ||||||||||||||
| 17 | 9 Y, 1 m | M | ND# | −0.2 | −0.5 | −0.4 | 0.2 | −1.0 | −0.2 | 28 | 30 | + | 1 | 9 |
| 18 | 9 Y, 9 m | M | ND | −2.6 | −3.2 | −1.4 | −2.1 | −2.4 | −1.7 | 35 | 7 | + | 1 | 7 |
| 19 | 9 Y, 9 m | M | ND | −2.0 | −2.7 | −1.4 | −3.1 | −2.1 | −1.5 | 32 | 8 | – | 0 | NA |
| 20 | 15 Y, 0 m | F | ND | −3.0 | −1.2 | −2.2 | −2.6 | −4.4 | −4.6 | 4 | 1 | + | 3 | 6 |
| 21 | 24 Y, 7 m | F | (1) c.2492_2493del # | −2.8 | −3.8 | −0.5 | −1.2 | −1.5 | −0.7 | 36 | 16 | + | 4 | 10 |
| (2) c.3283_3284insGAGC# | ||||||||||||||
| 22 | 30 Y, 0 m | F | (1) c.3276del # | −0.9 | −1.6 | −1.2 | −1.3 | −1.4 | −1.3 | 38 | 18 | + | 9 | 2 |
| (2) c.2492_2493del # | ||||||||||||||
| 23 | 33 Y, 0 m | M | (1) c.1391-1G>A # | −2.4 | −3.7 | −2.1 | −2.3 | −2.0 | −2.2 | 53 | 13 | + | 11 | 15 |
| (2) c.1573del # | ||||||||||||||
| 24 | 34 Y, 3 m. | M | (1) c.1573del | −1.5 | −2.7 | −1.1 | 0 | −0.8 | −1.0 | 46 | 3 | + | 2 | 5 |
| (2) c.1878 + 32_1878 + 55del | ||||||||||||||
| 25 | 36 Y, 3 m | F | (1) c.1222C>T/p.Gln408Ter | 1.0 | −0.5 | 1.1 | 0.2 | 0.1 | 0 | 55 | 57 | + | 5 | 8 |
| (2) c.2555_2560del | ||||||||||||||
| 26 | 36 Y, 6 m | M | (1) c.2207_2208insC | −2.0 | −3.6 | −0.9 | −1.3 | −0.6 | −0.6 | 24 | 19 | – | 0 | NA |
| (2)c.3061C>T/p.Arg1021Trp | ||||||||||||||
| 27 | 44 Y, 4 m | M | (1) c.2492_2493del | −3.6 | −3.7 | −1.2 | −2.2 | −1.3 | −1.7 | 16 | 1 | + | 12 | 5 |
| 28 | 48 Y, 2 m | F | ND | −0.3 | −1.1 | 1.6 | 1.0 | 0.4 | 0.2 | 21 | 19 | – | 0 | NA |
| 29 | 49 Y, 11 m | F | ND | 1 | −2.1 | 0.6 | −0.2 | 0.7 | 0.8 | 73 | 68 | – | 0 | NA |
M - male; F- female; ND – mutation not detected; + and – denote presence and absence of fracture history, respectively; NA - not applicable. #Sequencing results performed by a research laboratory at Baylor College of Medicine (L.L.W.); WB – whole body; LS – lumbar spine; TH – total hip; FN – femoral neck; aNumber of reported fractures at time of enrollment.