Table 2.
Mutations in Patients with OFD1
| Family(Casea) | Location | Nucleotide Changeb | Effect on Protein |
| 1 (F) | Exon 13 | 1303A→C | S434R |
| 3 (F) | Exon 3 | 312delG | Frameshift |
| 4 (F) | Exon 3 | 294–312delTGGTTTGGCAAAAGAAAAG | Frameshift |
| 6 (S) | Exon 3 | 121C→T | Nonsense mutation |
| 10 (S) | Exon 11 | 1071–1078 del GAAGGATG / 1071–1078 ins TTTTTCCT | KDD 357–359del/FSY 357–359ins |
| 27 (S) | Intron 4 | 312+2del (6) | Abnormal splicing |
| 28 (S) | Exon 16 | 1757delG | Frameshift |
a
F = familial; S = sporadic.
b
Mutation description is according to standard nomenclature, with the cDNA sequence of OFD1 used as the reference and with the ATG translation-initiation codon numbered as +1.