SLC2A1 基因突变的体细胞镶嵌现象：对葡萄糖转运蛋白1缺乏综合征遗传咨询的意义。

Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome.

Takahashi S, Matsufuji M, Yonee C, Tsuru H, Sano N, Oguni H

Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan.

Department of Pediatrics, National Hospital Organization Minami Kyushu Hospital, Kagoshima, Japan.

Clin Genet. 2017 Jun;91(6):932-933. doi: 10.1111/cge.12902. Epub 2017 Jan 26.

A heterozygous SLC2A1 mutation in the severely affected child was inherited from his less severely affected mother who was mosaic for the mutation.

Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome.