Table 1 Clinical and genetic findings in individuals further investigated with whole-genome sequencing (WGS) (n = 10)
From: Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta
Pat No. | OI type | Gender | Missing teeth | DGI | Gene | Mutation, cDNA** | Mutation, protein | Qual. = 1 Quant. = 0*** | Heredity* cDNA** | Agenesis in parents |
|---|---|---|---|---|---|---|---|---|---|---|
1 | IV | M | 15, 14, 24, 25, 34, 35, 44, 45 | 0 | COL1A1 | c.2461G > A | p.(Gly821Ser) | 1 | de novo mutation | mother, 3 teeth |
2 | IV | F | 15, 14, 24, 25, 34, 35, 44, 45 | 1 | COL1A2 | c.3106G > C | p.(Gly1036Arg) | 1 | unknown (adopted) | unknown |
3 | I | F | 15, 14, 24, 25, 35, 44, 45 | 1 | COL1A2 | c.856G > A | p.(Gly286Ser) | 1 | de novo mutation | none |
4 | III | F | 15, 14, 24, 25, 34, 35, 45 | 0 | COL1A1 | c.3118G > A | p.(Gly1040Ser) | 1 | de novo mutation | none |
5 | I | M | 15, 14, 25, 37, 44, 45, 47 | 0 | COL1A1 | c.1299 + 1G > A | Splice variant | 0 | maternal | + |
6 | III | M | 15, 14, 25, 35, 44, 45 | 0 | CREB3L1 | c.1284C > A | Nonsense | 0 | de novo mutation | none |
7 | III | F | 15, 14, 24, 25, 35, 45 | 1 | COL1A1 | c.2075G > C | p.(Gly692Ala) | 1 | de novo mutation | twin 6 teeth |
8 | III | F | 15, 24, 25, 35, 45 | 1 | COL1A1 | c.2075G > C | p.(Gly692Ala) | 1 | de novo mutation | twin 5 teeth |
9 | I | M | 15, 14, 24, 25, 34 | 1 | COL1A2 | c.3089G > C | p.(Gly1030Ala) | 1 | de novo mutation | none |
10 | IV | F | 16, 15, 14, 13, 23, 25, 26 | 0 | COL1A1 | c.4292C > T | p.(Thr1431Ile) | 1 | de novo mutation | none |