Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family. (30th October 2012)

• Record Type: Journal Article
• Authors: Sheth, Jayesh J.; Ankleshwaria, Chitra M.; Pawar, Rajeshwari; Sheth, Frenny J.
• Other Names: Cotter P. D. Academic Editor.; Mittal B. Academic Editor.
• Is Part Of: Case reports in genetics. Volume 2012(2012)
• Publication Date: 2012-10-30
• Subjects: Genetics -- Periodicals; Genetics -- Case studies -- Periodicals; Genetics; Genetic Phenomena; Genetics; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 576.5
• DOI: 10.1155/2012/428075
• Languages: English
• ISSNs: 2090-6544

Abstract

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.