少年/成人型半乳糖唾液中毒伴无血缘的纯合CTSA变异。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2025-09-26 DOI:10.1038/s41439-025-00324-0

Machiko Toki, Kazushige Tsunoda, Tetsumin So, Motomichi Kosuga, Torayuki Okuyama, Masashi Miharu, Tomonobu Hasegawa, Kazuki Yamazawa

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引用次数: 0

摘要

在这里，我们报告了一例携带c.692+3A>G CTSA纯合子的日本青少年/成人型半乳糖唾液中毒患者。综合遗传分析，包括外显子组测序、染色体微阵列和纯合子作图，支持该变异的双等位遗传，并提示在日本人群中存在始祖效应。临床表现为青少年/成人型半乳糖唾液中毒的典型特征，青春期的生长障碍不太明显，但相关的观察结果。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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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.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks