通过全基因组测序分析鉴定中国郝福泉综合征患者 USP7 中的两个变异体 c.2697A > C 和 c.3305A > C。

IF 1.2 Q4 GENETICS & HEREDITY
Global Medical Genetics Pub Date : 2024-01-16 eCollection Date: 2024-01-01 DOI:10.1055/s-0043-1778089
Mei Sun, Qing Li, Ying Zhang, Yingzi Cai, Yan Dong, Jianbo Shu, Dong Li, Chunquan Cai
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引用次数: 0

摘要

背景 人类泛素特异性蛋白酶 7(USP7)基因变异与神经发育障碍--郝福德综合征有关,其核心症状包括发育迟缓、智力障碍和语言发育迟缓。其他可变症状可影响多个系统。本研究报告了来自天津市儿童医院的两个非血缘关系近亲家庭的两名具有核心特征的患者。方法和结果 从患者及其家庭成员的外周血样本中提取基因组 DNA,并使用全外显子组测序(WES)检测患者的致病基因。随后通过桑格测序验证了可疑变异。在家族 1 中,全外显子测序发现该患者携带 USP7 (NM_003470.3) 中的 c.2697A > C (p.Leu899Phe) 新变异。在家族 2 中,WES 从探针中发现了 USP7(NM_003470.3)中的 c.3305A > C(p.Asn1102Thr)变异体。结论 我们报告了两例由新型 USP7 变异引起的郝福田综合征病例。此外,我们还报告了中国家族中第一例与 USP7 变体嵌合的病例。我们的研究结果证明了 WES 在遗传病诊断中的重要性,并扩展了郝-福斯特综合征的 USP7 变异谱。此外,我们还总结了文献中由USP7变体引起的病例。我们的研究可为今后的病例诊断提供重要参考。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Identification of Two Variants c.2697A > C and c.3305A > C in USP7 by Analysis of Whole-Exome Sequencing in Chinese Patients with Hao-Fountain Syndrome.

Background  Variants of ubiquitin-specific protease 7 ( USP7 ) gene in humans are associated with a neurodevelopmental disorder-Hao-Fountain syndrome, its core symptoms including developmental delay, intellectual disability, and speech delay. Other variable symptoms can affect multiple systems. In present study, we report two patients with core features from two unrelated consanguineous families originating from the Tianjin Children's Hospital. Methods and Results  Genomic DNA was extracted from the peripheral blood samples collected from the probands with their family members and whole-exome sequencing (WES) was used to detect the pathogenic genes in the probands. Suspected variants were subsequently validated by Sanger sequencing. In family 1, WES revealed that the proband carried the de novo variant c.2697A > C (p.Leu899Phe) in USP7 (NM_003470.3). In family 2, WES identified the variant c.3305A > C (p.Asn1102Thr) in USP7 (NM_003470.3) from the proband. Conclusion  We reported two cases of Hao-Fountain syndrome caused by novel USP7 variants. In addition, we report the first case of mosaicism with a USP7 variant in Chinese family. Our findings demonstrate the importance of WES in diagnosis of genetic diseases and expands the USP7 variants spectrum in Hao-Fountain syndrome. Moreover, we summarize the cases caused by USP7 variants in the literature. Our study can provide a vital reference for the diagnosis of future cases.

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来源期刊
Global Medical Genetics
Global Medical Genetics GENETICS & HEREDITY-
自引率
11.80%
发文量
30
审稿时长
14 weeks
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