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Table 1 Reported OI patients with mutations in BMP1

From: Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report

Family

Number of cases

Zygosity

Mutation

Reference

1

2

Homozygous

c.747C > G (p.Phe249Leu)

[14]

2

2

Homozygous

c.34G > C (p.Gly12Arg)

[12]

3

1

Homozygous

c.34G > C (p.Gly12Arg)

[15]

4

1

Homozygous

c.*241 T > C

[13]

5

1

Homozygous

c.*241 T > C

6

1

Homozygous

c.*241 T > C

7

1

Heterozygous

c.*241 T > C; c.2107G > C (p.Glu703Gln)

8

1

Heterozygous

c. 808A > G (p.Met270Val); c.1297G > T*

[16]

9

1

Heterozygous

c.925delG (p.Asp309Thrfs*54); c.1492G > A (p.Gly498Arg)

[11]

10

1

Heterozygous

c.34G > C (p.Gly12Arg); c.1839delC (p.Asn614Thrfs*188)

11

2

Heterozygous

c.34G > C (p.Gly12Arg); c.2188dupC (p.Gln730Profs*294)

12

1

Heterozygous

c.796_797delTT (p.Phe266Argfs*25); c.2108-2A > G

This report

  1. *This variant caused exon 10 skipping