title: Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family.
abstract: Carrier of tyrosinemia type I was diagnosed by sequencing FAH (fumarylacetoacetate hydrolase) gene. It leads to the identification of heterozygous status for both c.648C>G (p.Ile216Met) and c.1159G>A (p.Gly387Arg) mutations in exons 8 and 13, respectively, in the parents. The experimental program PolyPhen, SIFT, and MT predicts former missense point mutation as "benign" that creates a potential donor splice site and later one as "probably damaging" which disrupts secondary structure of protein.
authors.affiliation: Department of Molecular and Biochemical Genetics, Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat 380 015, India.
authors.forename: Jayesh J
authors.initials: JJ
authors.lastname: Sheth
authors.forename: Chitra M
authors.initials: CM
authors.lastname: Ankleshwaria
authors.forename: Rajeshwari
authors.initials: R
authors.lastname: Pawar
authors.forename: Frenny J
authors.initials: FJ
authors.lastname: Sheth