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Renal, cardiac, and neurologic disease in a patient with Fabry disease, hemizygous for the c.639+5G>C intronic variant in the galactosidase alpha () gene.

作者信息

Nunes José Pedro L, Soares-Dos-Reis Ricardo, Faria Maria do Sameiro, Martins Elisabete, Pinho Teresa, Rebelo João, Fonseca Rute N, Balboa López Martin, Ferreira Susana, Oliveira João Paulo

机构信息

Faculdade de Medicina da Universidade do Porto, Porto, Portugal.

Unidade Local de Saúde São João, Porto, Portugal.

出版信息

Porto Biomed J. 2025 Apr 11;10(2):e291. doi: 10.1097/j.pbj.0000000000000291. eCollection 2025 Mar-Apr.

DOI:10.1097/j.pbj.0000000000000291
PMID:40226296
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11984774/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d4b/11984774/b525fd33606b/pj9-10-e291-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d4b/11984774/fe2ff347f03a/pj9-10-e291-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d4b/11984774/27163401e2fc/pj9-10-e291-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d4b/11984774/8f9cf1d65f23/pj9-10-e291-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d4b/11984774/b525fd33606b/pj9-10-e291-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d4b/11984774/fe2ff347f03a/pj9-10-e291-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d4b/11984774/27163401e2fc/pj9-10-e291-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d4b/11984774/8f9cf1d65f23/pj9-10-e291-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d4b/11984774/b525fd33606b/pj9-10-e291-g004.jpg

相似文献

1
Renal, cardiac, and neurologic disease in a patient with Fabry disease, hemizygous for the c.639+5G>C intronic variant in the galactosidase alpha () gene.一名法布里病患者存在肾脏、心脏和神经系统疾病，其半乳糖苷酶α（）基因的c.639+5G>C内含子变异呈半合子状态。
Porto Biomed J. 2025 Apr 11;10(2):e291. doi: 10.1097/j.pbj.0000000000000291. eCollection 2025 Mar-Apr.
2
Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease.鉴定并功能表征首个引起法布里病肾脏变异型的深内含子 GLA 突变（IVS4+1326C>T）。
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c.640-814T>C mutation in deep intronic region of alpha-galactosidase A gene is associated with Fabry disease via dominant-negative effect.α-半乳糖苷酶A基因内含子深部区域的c.640-814T>C突变通过显性负效应与法布里病相关。
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First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease.首例携带 GLA c.610T > C 变异的女性患者表型描述：Fabry 病的肾脏优势表现。
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本文引用的文献

1
GLA insufficiency should not be called Fabry disease.GLA缺乏不应被称为法布里病。
Eur J Hum Genet. 2025 Mar;33(3):263-265. doi: 10.1038/s41431-024-01657-0. Epub 2024 Jun 27.
2
Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype- phenotype correlations.法布里病的多个表型领域及其在建立基因型-表型相关性中的意义。
Appl Clin Genet. 2019 Mar 5;12:35-50. doi: 10.2147/TACG.S146022. eCollection 2019.
3
Molecular and clinical studies in five index cases with novel mutations in the GLA gene.
对五例GLA基因发生新突变的索引病例进行的分子和临床研究。
Gene. 2016 Mar 1;578(1):100-4. doi: 10.1016/j.gene.2015.12.024. Epub 2015 Dec 12.