家族性腺瘤性息肉病的基因组学见解:揭示一个全 APC 基因缺失和智力残疾的罕见病例。

IF 1 Q4 GENETICS & HEREDITY
Hiroki Tanabe, Masami Ijiri, Kenji Takahashi, Honoka Sasagawa, Tomomi Kamanaka, Shohei Kuroda, Hiroki Sato, Takeo Sarashina, Yusuke Mizukami, Yoshio Makita, Toshikatsu Okumura
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引用次数: 0

摘要

一位被诊断为晚期结肠癌和肝转移的年轻患者通过综合基因组分析发现患有家族性腺瘤性息肉病(FAP)。全基因组阵列比较基因组杂交(aCGH)发现了染色体 5q22.1-22.2 上的种系缺失,包括整个 APC 基因。患者及其儿子表现出轻度智力障碍,但无发育迟缓。该病例突出表明,有必要进一步探讨与整个 APC 基因缺失相关的特征。aCGH 是研究 FAP 的重要工具,可对大的基因缺失进行详细分析。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability.

A young patient diagnosed with advanced colon cancer and liver metastasis was found to have familial adenomatous polyposis (FAP) through comprehensive genomic analysis. Whole-genome array comparative genomic hybridization (aCGH) revealed germline deletions at chromosome 5q22.1-22.2 encompassing the entire APC gene. The patient and her son exhibited mild intellectual disability without developmental delay. This case highlights the need for further exploration of the characteristics associated with whole APC deletions. aCGH is a valuable tool for studying FAP and provides a detailed analysis of large deletions.

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来源期刊
Human Genome Variation
Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
2.30
自引率
0.00%
发文量
39
审稿时长
13 weeks
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