[Clinical and genetic analysis of a case with 2p23.2p22.1 duplication].

Q4 Medicine 中华医学遗传学杂志 Pub Date : 2024-12-10 DOI:10.3760/cma.j.cn511374-20240628-00359

Leilei Gu, Xiangyu Zhu, Wei Liu, Jie Li

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Abstract

Objective: To report on the phenotype of an adult patient with 2p23.2p22.1 duplication and explore its genotype-phenotype correlation.

Methods: A pregnant woman who had presented at the Affiliated Drum Tower Hospital of Nanjing University Medical School on January 12, 2024 for a high risk signaled by NIPT was selected as the study subject. Amniotic fluid and peripheral blood samples were collected and subjected to chromosomal microarray analysis (CMA). The phenotype of the patient was observed, the medical history was taken, combined with the result of CMA assay, relevant database was searched for similar cases reported in the literature, and the correlation between genotype and phenotype was analyzed.

Results: The CMA result of the patient was arr[GRCh38]2p23.2p22.1(27961669_39280633)×3, which indicated a 11.31 Mb duplication. The woman was found to have short stature, learning disability, visual deficit, sleep disorder and other disorders.

Conclusion: The duplication of PPP1CB and SOS1 genes within the 2p23.2p22.1 region can result in Noonan syndrome-like clinical manifestations such as short stature and reduced visual acuity. The duplication of the PPP1CB gene may be associated with the abnormal visual phenotype.

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1例2p23.2p22.1重复的临床与遗传学分析

目的：报道1例2p23.2p22.1重复的成人患者的表型，并探讨其基因型与表型的相关性。方法：选择于2024年1月12日在南京大学医学院附属鼓楼医院就诊的NIPT高危提示孕妇为研究对象。采集羊水和外周血标本，进行染色体微阵列分析（CMA）。观察患者表型，采集病史，结合CMA检测结果，检索相关数据库，查找文献报道的类似病例，分析基因型与表型的相关性。结果：患者的CMA结果为arr[GRCh38]2p23.2p22.1（27961669_39280633）×3，提示有11.31 Mb的重复。这名妇女被发现有身材矮小、学习障碍、视力障碍、睡眠障碍和其他障碍。结论：PPP1CB和SOS1基因在2p23.2p22.1区域的重复可导致Noonan综合征样的临床表现，如身材矮小、视力下降。PPP1CB基因的重复可能与视觉表型异常有关。

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来源期刊

中华医学遗传学杂志 Medicine-Medicine (all)

CiteScore

0.50

自引率

0.00%

发文量

9521

期刊介绍： Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry. Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.