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韧带薄弱与关节倾斜：先天性寰枢椎脱位和基底凹陷症发病的新假说

Weak Ligaments and Sloping Joints: A New Hypothesis for Development of Congenital Atlantoaxial Dislocation and Basilar Invagination.

作者信息

Chauhan Avnish K, Chandra P Sarat, Goyal Nishant, Chowdhury Madhumita R, Banerjee Jyotirmoy, Tripathi Manjari, Kabra Madhulika

机构信息

Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India.

Department of Neurosurgery, All India Institute of Medical Sciences, Rishikesh, India.

出版信息

Neurospine. 2020 Dec;17(4):843-856. doi: 10.14245/ns.2040434.217. Epub 2020 Dec 31.

DOI:10.14245/ns.2040434.217
PMID:33401861
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7788422/
Abstract

OBJECTIVE

Developmental bony craniovertebral junction (CVJ) anomalies seem to have a genetic basis and also abnormal joint morphology causing atlantoaxial dislocation (AAD) and basilar invagination (BI).

METHODS

DNA extracted polymerase chain reaction single-stranded conformation polymorphism (SSCP) performed for mutation screening of FBN1 gene (n = 50 cases+ 50 age/sex-matched normal; total: 100). Samples with a deviated pattern of bands in SSCP were sequenced to detect the type of variation. Computed tomography (CT) scans of 100 patients (15-45 years old) compared with an equal number of age/sex-matched controls (21.9 ± 8.2 years). Joint parameters studied: sagittal joint inclination (SI), craniocervical tilt (CCT), coronal joint inclination (CI).

RESULTS

Thirty-nine samples (78%) showed sequence variants. Exon 25, 26, 27, and 28 showed variable patterns of DNA bands in SSCP, which on sequencing gives various types of DNA sequence variations in intronic region of the FBN1 gene in 14%, 14%, 6%, and 44% respectively. CT radiology:SI and CCT correlated with both BI and AAD (p < 0.01). The mean SI value in controls: 83.35° ± 8.65°, and in patients with BI and AAD:129° ± 24.05°. Mean CCT in controls: 60.2° ± 9.2°, and in patients with BI and AAD: 86.0° ± 18.1°. Mean CI in controls:110.3° ± 4.23°, and in cases: 125.15° ± 16.4°.

CONCLUSION

The study showed mutations in FBN1 gene (reported in Marfan syndrome). There is also an alteration of joint morphology, correlating with AAD and BI severity. Hence, we propose a double-hit hypothesis: the presence of weak ligaments (due to FB1 gene alterations) and abnormal joint morphology may contribute to AAD and BI.

摘要

目的

发育性颅骨颈椎连接部（CVJ）异常似乎有遗传基础，且关节形态异常会导致寰枢椎脱位（AAD）和基底凹陷（BI）。

方法

提取DNA，进行聚合酶链反应单链构象多态性（SSCP）分析以筛查FBN1基因的突变（50例患者 + 50例年龄/性别匹配的正常对照；共100例）。对SSCP中条带模式异常的样本进行测序以检测变异类型。对100例患者（15 - 45岁）进行计算机断层扫描（CT），并与相同数量的年龄/性别匹配的对照（21.9 ± 8.2岁）进行比较。研究的关节参数包括：矢状关节倾斜度（SI）、颅颈倾斜度（CCT）、冠状关节倾斜度（CI）。

结果

39个样本（78%）显示出序列变异。外显子25、26、27和28在SSCP中显示出不同的DNA条带模式，测序结果表明FBN1基因内含子区域分别有14%、14%、6%和44%出现了各种类型的DNA序列变异。CT影像学结果：SI和CCT与BI和AAD均相关（p < 0.01）。对照组的平均SI值为：83.35° ± 8.65°，BI和AAD患者组为：129° ± 24.05°。对照组的平均CCT为：60.2° ± 9.2°，BI和AAD患者组为：86.0° ± 18.1°。对照组的平均CI为：110.3° ± 4.23°，病例组为：125.15° ± 16.4°。

结论

该研究显示FBN1基因存在突变（在马凡综合征中有报道）。关节形态也有改变，与AAD和BI的严重程度相关。因此，我们提出双重打击假说：韧带薄弱（由于FB1基因改变）和关节形态异常可能导致AAD和BI。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e705/7788422/e2e54e7872b9/ns-2040434-217f7.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e705/7788422/9c713da67f89/ns-2040434-217f1.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e705/7788422/9c713da67f89/ns-2040434-217f1.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e705/7788422/752521b9f878/ns-2040434-217f3.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e705/7788422/e2e54e7872b9/ns-2040434-217f7.jpg

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In reply.作为答复。
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