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SHORT综合征新突变的鉴定：一例报告

Identification of A Novel Mutation of SHORT Syndrome: A Case Report.

作者信息

Huynh Quynh Thi Vu, Luong Tuong Trong, Ban Ho Tran, Tran Van

机构信息

Department of Pediatrics University of Medicine and Pharmacy Ho Chi Minh City Vietnam.

Nephrology and Endocrinology Department Children's Hospital 2 Ho Chi Minh City Vietnam.

出版信息

Clin Case Rep. 2025 Aug 25;13(9):e70820. doi: 10.1002/ccr3.70820. eCollection 2025 Sep.

DOI:10.1002/ccr3.70820
PMID:40860302
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12376303/
Abstract

SHORT syndrome is a rare inherited disease with 34 identified pathogenic or likely pathogenic mutations. The genotype-phenotype relationship remains inconsistent. Our case presents the first novel duplication that affects up to 25 nucleotides and truncates the PI3K protein, contributing valuable data to genetic understanding and characterization worldwide.

摘要

SHORT综合征是一种罕见的遗传性疾病，已鉴定出34种致病或可能致病的突变。基因型与表型的关系仍然不一致。我们的病例呈现了首个影响多达25个核苷酸并截断PI3K蛋白的新型重复，为全球范围内的遗传学理解和特征描述提供了有价值的数据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c586/12376303/d49e16620396/CCR3-13-e70820-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c586/12376303/ee9ca5311d7a/CCR3-13-e70820-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c586/12376303/d21c3e0aea96/CCR3-13-e70820-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c586/12376303/71af3129d0bf/CCR3-13-e70820-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c586/12376303/d49e16620396/CCR3-13-e70820-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c586/12376303/ee9ca5311d7a/CCR3-13-e70820-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c586/12376303/d21c3e0aea96/CCR3-13-e70820-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c586/12376303/71af3129d0bf/CCR3-13-e70820-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c586/12376303/d49e16620396/CCR3-13-e70820-g001.jpg

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本文引用的文献

1
The UCSC Genome Browser database: 2025 update.加州大学圣克鲁兹分校基因组浏览器数据库：2025年更新
Nucleic Acids Res. 2025 Jan 6;53(D1):D1243-D1249. doi: 10.1093/nar/gkae974.
2
A genomic mutational constraint map using variation in 76,156 human genomes.基于 76156 个人类基因组的变异，绘制出基因组突变约束图谱。
Nature. 2024 Jan;625(7993):92-100. doi: 10.1038/s41586-023-06045-0. Epub 2023 Dec 6.
3
Database resources of the national center for biotechnology information.国家生物技术信息中心数据库资源。
Nucleic Acids Res. 2022 Jan 7;50(D1):D20-D26. doi: 10.1093/nar/gkab1112.
4
The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature.台湾一名男孩首例SHORT综合征：病例报告及文献复习
Mol Genet Metab Rep. 2021 May 7;27:100768. doi: 10.1016/j.ymgmr.2021.100768. eCollection 2021 Jun.
5
Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review.SHORT 综合征伴胰岛素抵抗性糖尿病：病例报告及文献复习。
Endocr J. 2021 Jan 28;68(1):111-117. doi: 10.1507/endocrj.EJ20-0291. Epub 2020 Sep 3.
6
SHORT syndrome in two Chinese girls: A case report and review of the literature.两名中国女孩的SHORT 综合征：病例报告及文献复习。
Mol Genet Genomic Med. 2020 Sep;8(9):e1385. doi: 10.1002/mgg3.1385. Epub 2020 Jun 29.
7
Insulin-PI3K signalling: an evolutionarily insulated metabolic driver of cancer.胰岛素-PI3K 信号：癌症进化上隔离的代谢驱动因素。
Nat Rev Endocrinol. 2020 May;16(5):276-283. doi: 10.1038/s41574-020-0329-9. Epub 2020 Mar 3.
8
Phosphatidylinositol 3-Kinase, Growth Disorders, and Cancer.磷脂酰肌醇3激酶、生长紊乱与癌症
N Engl J Med. 2018 Nov 22;379(21):2052-2062. doi: 10.1056/NEJMra1704560.
9
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.伴有PIK3R1突变的SHORT综合征的临床重新评估：关于分子检测和管理建议的探讨
Clin Genet. 2016 Apr;89(4):501-506. doi: 10.1111/cge.12688. Epub 2015 Nov 27.
10
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.