Tan Jianqiang, Yan Tizhen, Chang Rongni, Yuan Dejian, Pan Lizhen, Cai Ren
Department of Medical Genetics, Liuzhou Maternal and Child Health Care Hospital, Liuzhou, Guangxi 545001, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jan 10;37(1):21-24. doi: 10.3760/cma.j.issn.1003-9406.2020.01.006.
To identify potential variant in a child diagnosed as infantile neuroaxonal dystrophy.
Genomic DNA was extracted from peripheral blood samples from the patient and his parents and subjected to next generation sequencing. Suspected variant was verified by PCR and Sanger sequencing. Pathogenicity of the mutation was predicted by using bioinformatic software including SIFT and PolyPhen-2.
The child was found to carry compound heterozygous variations c.668C>A (p.Pro223Gln) and c.2266C>T (p.Gln756Ter) of the PLA2G6 gene, which were respectively inherited from his father and mother. c.2266C>T has changed codon 756 (glutamine) into a stop codon, resulting premature termination of peptide chain synthesis. c.2266C>T has not been reported previously and was predicted to be harmful.
The compound variants of c.668C>A (p.Pro223Gln) and c.2266C>T (p.Gln756Ter) of the PLA2G6 gene probably underlies the disease in the child. Above finding has enriched the variant spectrum of the PLA2G6 gene.
鉴定一名被诊断为婴儿神经轴索性营养不良患儿的潜在变异。
从患者及其父母的外周血样本中提取基因组DNA，并进行下一代测序。通过聚合酶链反应（PCR）和桑格测序验证疑似变异。使用包括SIFT和PolyPhen-2在内的生物信息学软件预测突变的致病性。
发现该患儿携带PLA2G6基因的复合杂合变异c.668C>A（p.Pro223Gln）和c.2266C>T（p.Gln756Ter），分别遗传自其父亲和母亲。c.2266C>T将第756密码子（谷氨酰胺）变为终止密码子，导致肽链合成提前终止。c.2266C>T此前未见报道，预测为有害变异。
PLA2G6基因的c.668C>A（p.Pro223Gln）和c.2266C>T（p.Gln756Ter）复合变异可能是该患儿疾病的病因。上述发现丰富了PLA2G6基因的变异谱。
