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

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 prog...

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Autores principales: Sheth, Jayesh J., Ankleshwaria, Chitra M., Pawar, Rajeshwari, Sheth, Frenny J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3502793/
https://www.ncbi.nlm.nih.gov/pubmed/23193487
http://dx.doi.org/10.1155/2012/428075
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author Sheth, Jayesh J.
Ankleshwaria, Chitra M.
Pawar, Rajeshwari
Sheth, Frenny J.
author_facet Sheth, Jayesh J.
Ankleshwaria, Chitra M.
Pawar, Rajeshwari
Sheth, Frenny J.
author_sort Sheth, Jayesh J.
collection PubMed
description 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.
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spelling pubmed-35027932012-11-28 Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family Sheth, Jayesh J. Ankleshwaria, Chitra M. Pawar, Rajeshwari Sheth, Frenny J. Case Rep Genet Case Report 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. Hindawi Publishing Corporation 2012 2012-10-30 /pmc/articles/PMC3502793/ /pubmed/23193487 http://dx.doi.org/10.1155/2012/428075 Text en Copyright © 2012 Jayesh J. Sheth et al. https://creativecommons.org/licenses/by/3.0/ 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.
spellingShingle Case Report
Sheth, Jayesh J.
Ankleshwaria, Chitra M.
Pawar, Rajeshwari
Sheth, Frenny J.
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family
title Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family
title_full Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family
title_fullStr Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family
title_full_unstemmed Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family
title_short Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family
title_sort identification of novel mutations in fah gene and prenatal diagnosis of tyrosinemia in indian family
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3502793/
https://www.ncbi.nlm.nih.gov/pubmed/23193487
http://dx.doi.org/10.1155/2012/428075
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