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

Jayesh J.Sheth; Chitra M.Ankleshwaria; RajeshwariPawar; Frenny J.Sheth

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

机译：印度家庭FAH基因新突变的鉴定和酪氨酸血症的产前诊断

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Carrier of tyrosinemia type I was diagnosed by sequencingFAH(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.

机译：通过对FAH（富马酰乙酰乙酸水解酶）基因进行测序，可以诊断出I型酪氨酸血症的携带者。它导致鉴定出分别在父母的外显子8和13中的c.648C> G（p.Ile216Met）和c.1159G> A（p.Gly387Arg）突变的杂合状态。实验程序PolyPhen，SIFT和MT预测以前的错义点突变为“良性”，可形成潜在的供体剪接位点，随后为“可能破坏”，从而破坏蛋白质的二级结构。

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《Case Reports in Genetics》 |2012年第1期|共4页
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Jayesh J.Sheth; Chitra M.Ankleshwaria; RajeshwariPawar; Frenny J.Sheth;
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1. Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation [J] . Ijaz Sadaqat, Zahoor Muhammad Yasir, Imran Muhammad, Journal of pediatric endocrinology & metabolism: JPEM . 2016,第3期

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机译：一名香港华人患者中有两个新的FAH突变的I型酪氨酸血症的生化和分子诊断：在香港扩大新生儿筛查的建议
3. Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: Recommendation for expanded newborn screening in Hong Kong [J] . Clinical Biochemistry . 2013,第1a2期

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4. GENE LOCATION AND MUTATION DETECTION IN A LARGE CHINESE FAMILY WITH SEDC AND MOLECULAR PRENATAL DIAGNOSIS OF SEDC [C] . Xin-Yi Xia, Ying-Xia Cui, Bing Yao, International Forum on Progress on Post-Genome Technologies(5'IFPT); 20070910-11; Suzhou(CN) . 2007

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5. Genetic Counseling Following a Positive X-AFP Result: Identification of Additional Genetic Risk Factors Before Prenatal Diagnosis [D] . Hoang, Van T.T. 2010

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6. Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family [O] . Jayesh J. Sheth, Chitra M. Ankleshwaria, Rajeshwari Pawar, 2012

机译：印度家庭FAH基因新突变的鉴定和酪氨酸血症的产前诊断
7. First Macedonian child with tyrosinemia type 1 successfully treated with nitisinone and report of a novel mutation in the FAH gene [O] . Aco Kostovski, Nikolina Zdraveska, Marketa Tesarova, 2017

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

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