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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
  1. * de novo based on phenotype
  2. **cDNA positions COL1A1: ENST00000225964 (NM_000088.3); COL1A2: ENST00000297268 (NM_000089.3);
  3. CREB3L1: ENSG00000157613 (NM_052854.3)
  4. ***Qual. = predicted qualitatively changed protein, quant. = predicted quantitatively changed protein