Case Report
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family
Table 1
Frequency of mutations found in FAH gene all over the world*.
| Population | Mutations | Frequency |
| Ashkenazi Jewish | p.Pro261Leu (P261L) | ~100% | Finnish | p.Trp262X (W262X) | N/A | French Canadian | c.1062+5G>A (IVS 12+5G>A) | 87.9% | Pakistani mutation | p.Gln64His (Q64H) | N/A | Scandinavian | p.Gly337Ser (G337S) | N/A | Turkish | p.Asp233Val (D233V) | N/A | Northern European | c.1062+5G>A (IVS 12+5G>A) | 60% | Southern European | c.554-1G>T (IVS 6-1G>T) | N/A | Indian (Present study) | p.Ile216Met and p.Gly387Arg | N/A |
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*The above mentioned population-specific mutations result from founder effect or genetic drift [9, 11ā14].
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