患有KBG综合征的儿童
Badiginchala Naga Jyothi1, Sumathi Angel1,2, Chinthalapalli Prakash Ravi Kumar1
1Pediatric Neurology, Aster CMI Hospital, Bengaluru, Karnataka, India.
BMJ case reports
|December 4, 2024
概括
移动应用Face2Gene在一个发育迟缓和独特的面部特征的孩子身上发现了卡布基化综合征 (KBG综合征). 外体序列测序证实了诊断,突出了应用程序的诊断潜力.
科学领域:
- 医学遗传学 医学遗传学
- 临床形学 临床形学 临床形学
- 生物信息学是一种生物信息学.
背景情况:
- 卡布基化综合征 (KBG综合征) 是一种罕见的遗传疾病,其特点是发育迟缓,智力障碍和独特的面部特征.
- 早期和准确的诊断对于适当的管理和遗传咨询至关重要.
- 面部识别软件正在成为帮助诊断罕见遗传综合征的工具.
研究的目的:
- 在移动面部分析应用程序的帮助下诊断出KBG综合征的病例.
- 为了证明Face2Gene应用程序在识别潜在的罕见遗传综合征方面的实用性.
- 通过分子遗传测试来确认诊断.
主要方法:
- 对一个患有发育迟缓和异形特征的男孩的临床评估.
- 通过使用Face2Gene手机应用程序进行综合征查,分析了患者的面部照片.
- 进行了外体序列测序,以确定导致疑似综合征的遗传突变.
主要成果:
- 根据患者的面部特征,Face2Gene应用程序表明KBG综合征的可能性很高.
- 外体序列测定在ANKRD11基因中发现了异合致病性突变 (p.Tyr1406Ter),证实了KBG综合征的诊断.
- 鉴定出的突变是一种已知与KBG综合征相关的致病变体.
结论:
- Face2Gene应用程序可以作为KBG综合征的宝贵初步诊断工具.
- 分子遗传测试,如外基因序列测试,对于确定KBG综合征的诊断至关重要.
- 这一案例凸显了先进的移动应用程序和基因测序在诊断罕见遗传疾病方面的协同潜力.
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