Table 1.
Genetic findings of 28 OI probands with mutations in COL1A1
| Family No. | Type of OI | Exon or Intron | Nucleotide change (DNA level) | Predicted amino acid change (protein level) | Mutation type | Helical mutation or haploinsufficiency | Novel mutation | Familial/Sporadic |
|---|---|---|---|---|---|---|---|---|
| F1 | I | Exon 4 | c.333-9A > G | Splicing | Haploinsufficiency | Yes | S | |
| F2 | I | Exon 5 | c.441delC | Frameshift | Haploinsufficiency | S | ||
| F3 | I | Exon 5 | c.386_387insC | Frameshift | Haploinsufficiency | Yes | F | |
| F4 | IV | Exon 5 | c.391C > T | p. Arg131X | Nonsense | Haploinsufficiency | S | |
| F5 | IV | Exon 6 | c.477_478 insT | Frameshift | Haploinsufficiency | Yes | S | |
| F6 | I | Exon 7 | c.579delT | p. Pro193Profs*72 | Frameshift | Haploinsufficiency | F | |
| F7 | IV | Exon 8 | c.642 + 1G > A | Splicing | Haploinsufficiency | S | ||
| F8 | I | Exon 8 | c.590G > A | p. Gly197Asp | Missense | Helical | S | |
| F9 | I | Exon 9 | c.658C > T | p. Arg220X | Nonsense | Haploinsufficiency | F | |
| F10 | IV | Exon 11 | c.769G > A | p. Gly257Arg | Missense | Helical | F | |
| F11 | IV | Intron 12 | c.858 + 24G > A | Splicing | Haploinsufficiency | Yes | S | |
| F12 | III | Exon 13 | c.878G > A | p. Gly293Asp | Missense | Helical | Yes | S |
| F13 | III | Exon 16 | c.1021G > C | p. Gly341Arg | Missense | Helical | Yes | S |
| F14 | IV | Intron 17 | c.1155 + 3_1155 + 6del | c.1155 + 3_6delAAGT | Splicing | Haploinsufficiency | S | |
| F15 | I | Intron 20 | c.1354-12G > A | Splicing | Haploinsufficiency | F | ||
| F16 | I | Exon 21 | c.1380delT | Frameshift | Haploinsufficiency | F | ||
| F17 | IV | Exon 24 | c.1667delC | Frameshift | Haploinsufficiency | Yes | S | |
| F18 | I | Exon 24 | c.1615-1G > T | Splicing | Haploinsufficiency | Yes | S | |
| F19 | IV | Exon 35 | c.2384-2394 del 11 mers | Frameshift | Haploinsufficiency | Yes | S | |
| F20 | IV | Exon 36 | c.2461G > A | p. Gly821Ser | Missense | Helical | S | |
| F21 | I | Exon 37 | c.2523delT | Frameshift | Haploinsufficiency | S | ||
| F22 | I | Exon 38 | c.2644C > T | p. Arg882X | Nonsense | Haploinsufficiency | F | |
| F23 | I | Exon 40 | c.2775delT | Frameshift | Haploinsufficiency | Yes | S | |
| F24 | III | Exon 42 | c.3064G > A | p. Gly1022Ser | Missense | Helical | S | |
| F25 | I | Exon 42 | c.3076C > T | p. Arg1026X | Nonsense | Haploinsufficiency | F | |
| F26 | IV | Exon 44 | c.3124_3134del11 | Frameshift | Haploinsufficiency | Yes | S | |
| F27 | IV | Exon 47 | c.3505G > A | p. Gly1169Ser | Missense | Helical | S | |
| F28 | III | Exon 52 | c.4308_4309insA | Frameshift | Haploinsufficiency | S |
OI osteogenesis imperfecta