Juvenile/adult-type galactosialidosis with a homozygous CTSA variant without consanguinity
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.
Authors
- Masashi Miharu
- Kazuki Yamazawa (ORCID: https://orcid.org/0000-0003-4895-2759)
- Machiko Toki (ORCID: https://orcid.org/0009-0006-2062-3928)
- Tetsumin So (ORCID: https://orcid.org/0000-0002-6245-8274)
- Kazushige Tsunoda (ORCID: https://orcid.org/0009-0001-4913-1277)
- Tomonobu Hasegawa (ORCID: https://orcid.org/0000-0002-0143-3989)
- Torayuki Okuyama (ORCID: https://orcid.org/0000-0003-3004-1412)
- Motomichi Kosuga
Institutions
- Keio University (JP)
- NTT Medical Center (JP)
- Tokyo Medical Center (JP)
- National Center For Child Health and Development (JP)
- Chiba Hospital (JP)
- Saitama Medical University (JP)
Publication Details
- Journal
- Human Genome Variation
- Published
- 2025-09-26
- DOI
- https://doi.org/10.1038/s41439-025-00324-0
- Primary Topic
- Porphyrin Metabolism and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministry of Health, Labour and Welfare
- Japan Society for the Promotion of Science