Mutation of NKX2-5 gene in patients with atrial septal defect

OBJECTIVE: The purpose of this investigation was to identify the novel genetic mutations in patients with a congenital atrial septal defect (ASD)

Bibliographische Detailangaben
Veröffentlicht in:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 47(2009), 9 vom: 21. Sept., Seite 696-700
1. Verfasser: Liu, Xing-yuan (VerfasserIn)
Weitere Verfasser: Yang, Yi-qing, Yang, Ying, Lin, Xiao-ping, Chen, Yi-han
Format: Aufsatz
Sprache:Chinese
Veröffentlicht: 2009
Zugriff auf das übergeordnete Werk:Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:Case Reports Journal Article Research Support, Non-U.S. Gov't Homeobox Protein Nkx-2.5 Homeodomain Proteins NKX2-5 protein, human Transcription Factors
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245 1 0 |a Mutation of NKX2-5 gene in patients with atrial septal defect 
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500 |a Date Revised 25.11.2016 
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500 |a Citation Status MEDLINE 
520 |a OBJECTIVE: The purpose of this investigation was to identify the novel genetic mutations in patients with a congenital atrial septal defect (ASD) 
520 |a METHODS: Clinical data and blood specimens from a total of 12 unrelated ASD pedigrees and a cohort of 168 unrelated subjects with sporadic ASD were collected and evaluated in contrast to 200 healthy individuals. The whole exons and partial flanking introns of NKX2-5 gene were amplified by polymerase chain reaction and sequenced using the di-deoxynucleotide chain termination approach. The acquired sequences were aligned with those publicized in GenBank by the aid of programme BLAST to identify the sequence variations. The software ClustalW was applied for analysis of the conservative of the altered amino acids 
520 |a RESULTS: A novel heterozygous mutation of NKX2-5 gene, i.e., a substitution of thymine for cytosine at nucleotide 536, predicting the conversion of serine into phenylalanine at amino acid residue 179, was identified initially in a proband. The same missense mutation was thereafter detected in other 3 affected members of the identical family but neither in the healthy members of the kindred nor in the 200 normal controls. A cross-species alignment of the protein sequences encoded by NKX2-5 gene displayed that the mutated amino acid was highly conserved evolutionarily. No mutation of NKX2-5 gene was observed in the other 11 ASD pedigrees or in 168 patients with sporadic ASD. Additionally, a common synonymous single nucleotide polymorphism, a transition of adenine (A) into guanine (G) at nucleotide 63, was found in NKX2-5 gene. However, there were no significant differences in the prevalence of alleles A and G between ASD patients and healthy controls (chi(2) = 2.8641, P = 0.0906) 
520 |a CONCLUSION: A novel mutation of NKX2-5 gene identified in an ASD family suggests that mutated NKX2-5 gene is responsible for familial ASD 
650 4 |a Case Reports 
650 4 |a Journal Article 
650 4 |a Research Support, Non-U.S. Gov't 
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700 1 |a Yang, Yi-qing  |e verfasserin  |4 aut 
700 1 |a Yang, Ying  |e verfasserin  |4 aut 
700 1 |a Lin, Xiao-ping  |e verfasserin  |4 aut 
700 1 |a Chen, Yi-han  |e verfasserin  |4 aut 
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