电邮这篇文章 2例俄罗斯患者Saul-Wilson综合征的临床和遗传特征及骨科表现
- 作者: Markova T.V.1, Kenis V.M.2, Melchenko E.V.3, Demina N.A.1, Gundorova P.1, Nagornova T.S.1, Dadali E.L.1
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隶属关系:
- Research Centre for Medical Genetics
- The Turner Scientific Research Institute for Children’s Orthopedics
- H. Turner National Medical Research Centre for Children’s Orthopedics and Trauma Surgery
- 期: 卷 8, 编号 4 (2020)
- 页面: 451-460
- 栏目: Clinical cases
- ##submission.dateSubmitted##: 21.04.2020
- ##submission.dateAccepted##: 15.07.2020
- ##submission.datePublished##: 09.01.2021
- URL: https://journals.eco-vector.com/turner/article/view/33826
- DOI: https://doi.org/10.17816/PTORS33826
- ID: 33826
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详细
论证：Saul-Wilson综合征（小头骨骼发育不良）是一种罕见的骨骼发育不良遗传变异，根据现代分类，被归为瘦骨发育不良组。迄今为止，已有16例来自不同国家的Saul-Wilson综合征患者被描述。这是由于COG4基因1546位的胞嘧啶或腺嘌呤取代鸟嘌呤，导致蛋白分子516位的精氨酸取代甘氨酸。这种综合征在肌肉骨骼系统方面最为明显。
临床观察。第一个描述的临床和遗传特征的两个俄罗斯Saul-Wilson综合征患者提出并与文献数据比较。确定该病的主要临床表现为侏儒症、长管状骨、脊柱和视觉器官的病理。对不同年龄阶段患者表型形成的动态变化进行了分析。
讨论。分析我们观察到的患者的临床表现特征和文献中描述患者的面部结构的典型畸形特征和X线资料，使我们在临床检查时怀疑Saul-Wilson综合征。正如所描述的大多数患者一样，导致该病发生的大突变是核苷酸替代c.1546G>A，这导致蛋白分子中的氨基酸Gly516Arg被替换。
结果。根据所确定的Saul-Wilson综合征患者表型的具体特征以及导致其发生的COG4基因的大突变，提出了在该综合征的分子遗传学诊断中优先分析该基因突变的建议。该综合征的骨科表现可导致危及生命的情况（颈椎不稳）和运动受限（进行性髋关节病变），因此应对患者进行动态监测。
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作者简介
Tatyana Markova
Research Centre for Medical Genetics
编辑信件的主要联系方式.
Email: markova@med-gen.ru
ORCID iD: 0000-0002-2672-6294
MD, PhD, clinical geneticist, Diagnostic Сentre. Research Centre for Medical Genetics
俄罗斯联邦, MoscowVladimir Kenis
The Turner Scientific Research Institute for Children’s Orthopedics
Email: kenis@mail.ru
ORCID iD: 0000-0002-7651-8485
SPIN 代码: 5597-8832
Scopus 作者 ID: 341189
http://www.rosturner.ru/kl4.htm
MD, PhD, D.Sc., Deputy Director for Development and International Relations, Head of the Department of Foot Pathology, Neuroorthopedics and Systemic Diseases
俄罗斯联邦, Saint-PetersburgEvgenii Melchenko
H. Turner National Medical Research Centre for Children’s Orthopedics and Trauma Surgery
Email: emelchenko@gmail.com
MD, PhD, orthopedic surgeon, Research Associate, Department of Foot Pathology, Neuroorthopedics and Systemic Diseases
俄罗斯联邦, Saint PetersburgNina Demina
Research Centre for Medical Genetics
Email: ndemina47@mail.ru
ORCID iD: 0000-0003-0724-9004
MD, clinical geneticist, Honored Physician of Russia
俄罗斯联邦, МоскваPolina Gundorova
Research Centre for Medical Genetics
Email: markova@med-gen.ru
ORCID iD: 0000-0001-8703-7997
PhD in Biology, Senior Research Associate, Laboratory of DNA Diagnostics
俄罗斯联邦, MoscowTatyana Nagornova
Research Centre for Medical Genetics
Email: t.korotkaya90@gmail.com
ORCID iD: 0000-0003-4527-4518
MD, clinical geneticist, Laboratory of Selective Screening
俄罗斯联邦, MoscowElena Dadali
Research Centre for Medical Genetics
Email: markova@med-gen.ru
MD, PhD, DSci, Professor, Head of Department of Diagnostics
俄罗斯联邦, Moscow参考
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