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Case Reports in Genetics
Volume 2012, Article ID 428075, 4 pages
Case Report

Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family

1Department of Molecular and Biochemical Genetics, Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat 380 015, India
2Department of Obstetrics and Gynecology, Jehangir Hospital, Sassoon Road, Pune 411 001, India

Received 27 July 2012; Accepted 5 September 2012

Academic Editors: P. D. Cotter and B. Mittal

Copyright © 2012 Jayesh J. Sheth et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.