Analysis of NFU1 gene mutation in a Chinese family affected with multiple mitochondrial dysfunction syndrome.
- VernacularTitle:一个多发性线粒体功能障碍综合征家系的NFU1基因突变分析
- Author:
Ying BAI
1
;
Xiangdong KONG
Author Information
- Publication Type:Case Reports
- MeSH: Asian Continental Ancestry Group; genetics; Base Sequence; Carrier Proteins; genetics; China; Exome; genetics; Family Health; Fatal Outcome; Female; Genetic Predisposition to Disease; ethnology; genetics; Heterozygote; High-Throughput Nucleotide Sequencing; methods; Humans; Infant; Male; Mitochondrial Diseases; ethnology; genetics; Mutation; Pedigree; Sequence Deletion; Sequence Homology, Nucleic Acid
- From: Chinese Journal of Medical Genetics 2017;34(1):26-29
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect potential mutation of NFU1 gene in a Chinese family affected with multiple mitochondrial dysfunction syndrome (MMDS).
METHODSFor a mother with two children died of MMDS, next-generation sequencing (NGS) was used to scan her exome. Suspected mutation was validated with PCR and Sanger sequencing. Potential mutation of exons 1 to 8 and flanking regions of the NFU1 gene was also detected in the father by PCR and Sanger sequencing.
RESULTSA novel deletional mutation c.90delC(p.Tyr30Ter) of the NFU1 gene was found in the mother, while the father was found to have carried a heterozygous c.572A>T (p.Asp191Val) mutation. The same mutations were not found among 100 healthy controls.
CONCLUSIONThe novel mutations c.90delC (p.Tyr30Ter) and c.572A>T (p.Asp191Val) of the NFU1 gene probably underlie the pathogenesis of MMDS in our case. Combined NGS and Sanger sequencing may provide efficient and accurate diagnosis for this disease.
