具有纯合子CTSA变异且无血缘关系的青少年/成人型半乳糖唾液酸贮积症。
Juvenile/adult-type galactosialidosis with a homozygous CTSA variant without consanguinity.
作者信息
Toki Machiko, Tsunoda Kazushige, So Tetsumin, Kosuga Motomichi, Okuyama Torayuki, Miharu Masashi, Hasegawa Tomonobu, Yamazawa Kazuki
机构信息
Department of Pediatrics, NHO Tokyo Medical Center, Tokyo, Japan.
Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
出版信息
Hum Genome Var. 2025 Sep 26;12(1):20. doi: 10.1038/s41439-025-00324-0.
Here we report a Japanese patient with juvenile/adult-type galactosialidosis carrying a homozygous c.692+3A>G CTSA variant. Comprehensive genetic analyses including exome sequencing, chromosomal microarray and homozygosity mapping supported biallelic inheritance of this variant and suggested a founder effect in the Japanese population. Clinically, the patient exhibited typical features of the juvenile/adult-type galactosialidosis, with growth impairment noted during adolescence as a less conspicuous but relevant observation.
在此，我们报告了一名患有青少年/成人型半乳糖唾液酸贮积症的日本患者，其携带纯合的CTSA基因c.692+3A>G变异。包括外显子组测序、染色体微阵列和纯合性定位在内的全面基因分析支持了该变异的双等位基因遗传，并提示在日本人群中存在奠基者效应。临床上，该患者表现出青少年/成人型半乳糖唾液酸贮积症的典型特征，青春期出现生长发育迟缓，这一表现虽不太明显但具有相关性。
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