Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: Identification of novel mutations that affect PAH RNA

被引：10

作者：

Bashyam, Murali D. ^{[1
]}

Chaudhary, Ajay K. ^{[1
]}

Reddy, E. Chandrakanth ^{[1
]}

Devi, A. Radha Rama ^{[2
]}

Savithri, G. R. ^{[1
,3
]}

Ratheesh, R. ^{[1
]}

Bashyam, Leena ^{[2
]}

Mahesh, E. ^{[1
]}

Sen, Dity ^{[1
]}

Puri, Ratna ^{[4
]}

Verma, Inder C. ^{[4
]}

Nampoothiri, Sheela ^{[5
]}

Vaidyanathan, Sunitha ^{[5
]}

Chandrashekar, Mataguru D. ^{[6
]}

Kantheti, Prameela ^{[6
]}

机构：

[1] Ctr DNA Fingerprinting & Diagnost, Mol Oncol Lab, Hyderabad 500001, Andhra Pradesh, India

[2] Ctr DNA Fingerprinting & Diagnost, Div Diagnost, Hyderabad 500001, Andhra Pradesh, India

[3] Ctr DNA Fingerprinting & Diagnost, Mol & Cellular Biol Lab, Hyderabad 500001, Andhra Pradesh, India

[4] Sir Ganga Ram Hosp, Delhi, India

[5] Amrita Inst Med Sci & Res Ctr, Cochin, Kerala, India

[6] Ctr Human Genet, Bangalore, Karnataka, India

来源：

MOLECULAR GENETICS AND METABOLISM | 2010年 / 100卷 / 01期

关键词：

Phenylketonuria; Phenylalanine hydroxylase; Mutation; Splicing; Nonsense-mediated decay; MOLECULAR CHARACTERIZATION;

D O I：

10.1016/j.ymgme.2010.01.016

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Analysis of seven Indian phenylketonuria families has revealed four novel mutations in the phenylalanine hydroxylase gene; two affected consensus splice sequence and the 3' UTR, respectively, while the other two were single base insertion and deletion mutations, respectively. A novel 3' splice site mutation c.168-2A>G resulted in the activation of a cryptic 3' splice site that generated a premature termination codon leading to very low levels of the mutant transcript, probably due to activation of the nonsense-mediated decay (NMD) pathway. This is probably the first report of PKU caused by the activation of NMD. (C) 2010 Elsevier Inc. All rights reserved.

引用

页码：96 / 99

页数：4

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