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颅面护理中的基因检测：用于检测患有口面部裂、鳃弓异常和颅缝早闭患者的检测算法的开发。

Genetic Testing in Craniofacial Care: Development of Algorithms for Testing Patients with Orofacial Clefting, Branchial Arch Anomalies, and Craniosynostosis.

作者信息

Gallagher Emily R, Chow Penny, Mills Maria R, Perry Hazel, Tam Allison C, Rosenbluth Glenn, Gutierrez Yvonne R, Shamshoni Jessica Kianmahd, Matthews Marisa, Schweitzer Daniela N, Hing Anne

机构信息

Seattle Children's Hospital, Seattle, WA, USA.

University of California San Francisco, San Francisco, CA, USA.

出版信息

Cleft Palate Craniofac J. 2025 Oct;62(10):1764-1773. doi: 10.1177/10556656241276857. Epub 2024 Aug 18.

DOI:10.1177/10556656241276857
PMID:39155612
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12405648/
Abstract

ObjectiveTo develop consensus-based algorithms for genetic testing in patients with common craniofacial conditions.DesignAn online collaborative consisting of online meetings, independent work, and feedback across groups. A collaborative of genetics and pediatrics providers from three regional craniofacial centers (four institutions).MethodsCollaborative participants agreed upon a shared initial framework, developed algorithms independently, and presented/tested the algorithms with a national audience. Algorithms were modified based on consensus feedback.ResultsThe collaborative group developed final algorithms for genetic testing in patients with orofacial cleft, branchial arch conditions, and craniosynostosis.ConclusionsTimely and accurate diagnosis of genetic conditions can support medical management recommendations that result in safer surgical interventions. Algorithms can help guide best-practices for testing, particularly in institutions without easy access to genetics providers.

摘要

目的

制定基于共识的常见颅面部疾病患者基因检测算法。

设计

一项在线协作项目，包括在线会议、独立工作以及跨组反馈。由来自三个地区颅面部中心（四个机构）的遗传学和儿科医疗服务提供者组成的协作团队。

方法

协作参与者商定了一个共享的初始框架，独立开发算法，并向全国受众展示/测试这些算法。根据共识反馈对算法进行修改。

结果

协作小组制定了唇腭裂、鳃弓疾病和颅缝早闭患者基因检测的最终算法。

结论

及时准确地诊断基因疾病有助于支持医疗管理建议，从而实现更安全的手术干预。算法有助于指导检测的最佳实践，特别是在难以获得遗传学医疗服务提供者的机构中。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7bd6/12405648/7fa897652e74/10.1177_10556656241276857-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7bd6/12405648/f96a3383d9e1/10.1177_10556656241276857-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7bd6/12405648/61e9f29be849/10.1177_10556656241276857-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7bd6/12405648/7fa897652e74/10.1177_10556656241276857-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7bd6/12405648/f96a3383d9e1/10.1177_10556656241276857-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7bd6/12405648/61e9f29be849/10.1177_10556656241276857-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7bd6/12405648/7fa897652e74/10.1177_10556656241276857-fig3.jpg

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本文引用的文献

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Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.22q11.2 缺失综合征患儿管理的临床实践更新推荐
Genet Med. 2023 Mar;25(3):100338. doi: 10.1016/j.gim.2022.11.006. Epub 2023 Feb 2.
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ERF-related craniosynostosis and surgical management in the paediatric cohort.ERF 相关颅缝早闭症和儿科患者的手术治疗。
Childs Nerv Syst. 2023 Apr;39(4):983-988. doi: 10.1007/s00381-022-05700-7. Epub 2022 Oct 8.
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Cognitive, Behavioural, Speech, Language and Developmental Outcomes Associated with Pathogenic Variants in the ERF Gene.
与 ERF 基因致病性变异相关的认知、行为、言语、语言和发育结局。
J Craniofac Surg. 2022 Sep 1;33(6):1847-1852. doi: 10.1097/SCS.0000000000008659. Epub 2022 Jun 28.
4
Primary Delayed Onset Craniosynostosis in a Child With ERF-Related Craniosynostosis Syndrome and Familial Cerebral Cavernous Malformation Syndrome.伴有 ERF 相关颅缝早闭综合征和家族性脑静脉畸形综合征的儿童中发生的原发性迟发性颅缝早闭。
Cleft Palate Craniofac J. 2023 Oct;60(10):1321-1325. doi: 10.1177/10556656221088743. Epub 2022 Mar 21.
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Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.眼-耳-脊椎综合征：复杂疾病的新基因及文献综述
J Med Genet. 2022 May;59(5):417-427. doi: 10.1136/jmedgenet-2021-108219. Epub 2022 Feb 2.
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Complex Airway Management in Patients with Tracheal Cartilaginous Sleeves.气管软骨套囊患者的气道复杂管理
Laryngoscope. 2022 Jan;132(1):215-221. doi: 10.1002/lary.29692. Epub 2021 Jun 16.
7
Neurodevelopmental, Cognitive, and Psychosocial Outcomes for Individuals With Pathogenic Variants in the TCF12 Gene and Associated Craniosynostosis.携带 TCF12 基因突变及相关颅缝早闭个体的神经发育、认知和社会心理结局。
J Craniofac Surg. 2021 May 1;32(Suppl 3):1263-1268. doi: 10.1097/SCS.0000000000007535.
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Eur J Hum Genet. 2021 Jun;29(6):920-929. doi: 10.1038/s41431-020-00788-4. Epub 2020 Dec 7.
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Muenke syndrome: Medical and surgical comorbidities and long-term management.Muenke 综合征：合并症的医学和外科治疗及长期管理。
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