He Fengjuan, Xu Shenjian, Li Qiwen, Jiang Mengting, Mao Xiuzhen
Prenatal Diagnostic Center, Suqian First Hospital Affiliated to Nanjing Medical University, Suqian, Jiangsu 223800, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Oct 10;39(10):1089-1092. doi: 10.3760/cma.j.cn511374-20210909-00735.
To explore the genetic etiology for a Chinese pedigree affected with Alazami syndrome.
Genomic DNA was extracted for 2 patients and 2 unaffected members from the pedigree. Whole exome sequencing was carried out to detect potential variant in the proband, and the result was verified by Sanger sequencing.
The proband and her sister were both found to harbor compound heterozygous variants of LARP7 gene, namely c.94A>T (p.Lys32*) and c.1141A>G (p.Lys381Glu), which were inherited from their father and mother, respectively. Both variants were predicted to be pathogenic based on bioinformatic analysis.
The two variants of the LARP7 gene, both were unreported previously, probably underlay the Alazami syndrome in this pedigree. Above finding has expanded the mutational spectrum of the LARP7 gene.
探究一个患阿拉扎米综合征的中国家系的遗传病因。
从该家系中提取2例患者及2名未患病成员的基因组DNA。对先证者进行全外显子组测序以检测潜在变异，并通过桑格测序验证结果。
先证者及其妹妹均被发现携带LARP7基因的复合杂合变异，即c.94A>T（p.Lys32*）和c.1141A>G（p.Lys381Glu），分别从其父亲和母亲遗传而来。基于生物信息学分析，这两个变异均被预测为致病性变异。
LARP7基因的这两个变异此前均未被报道，可能是该家系中阿拉扎米综合征的病因。上述发现扩展了LARP7基因的突变谱。
