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Table 1 Genetic findings of 28 OI probands with mutations in COL1A1

From: Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta

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
  1. OI osteogenesis imperfecta