Yamamoto-Shimojima Keiko, Ono Hiroaki, Imaizumi Taichi, Yamamoto Toshiyuki
Japan Society for the Promotion of Science (RPD), Tokyo, Japan.
Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
Hum Genome Var. 2020 May 26;7:16. doi: 10.1038/s41439-020-0103-5. eCollection 2020.
Comprehensive genomic analysis was performed in a patient with mild psychomotor developmental delay, elevated creatine kinase, and white matter abnormalities. The results revealed biallelic pathogenic variants in the gene related to merosin-deficient congenital muscular dystrophy, NM_000426.3(LAMA2):c.1338_1339del [p.Gly447Phefs*7] and c.2749 + 2dup, which consist of compound heterozygous involvement with predicted loss-of-function and splicing abnormalities.
对一名患有轻度精神运动发育迟缓、肌酸激酶升高和白质异常的患者进行了全面的基因组分析。结果显示，与缺乏merosin的先天性肌营养不良相关的基因NM_000426.3（LAMA2）存在双等位基因致病性变异：c.1338_1339del [p.Gly447Phefs*7] 和c.2749 + 2dup，这构成了复合杂合子受累，伴有预测的功能丧失和剪接异常。
