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

*The above mentioned population-specific mutations result from founder effect or genetic drift [9, 11–14].