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Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.
American Journal of Medical Genetics Part A ( IF 2 ) Pub Date : 2020-02-24 , DOI: 10.1002/ajmg.a.61523
Sandy Ayoub 1 , Neeti Ghali 1 , Chloe Angwin 1 , Duncan Baker 2 , Stella Baffini 3 , Angela F Brady 1 , Maria Luisa Giovannucci Uzielli 3 , Cecilia Giunta 4 , Diana S Johnson 5 , Tomoki Kosho 6 , Katherine Neas 7 , F Michael Pope 1 , Frank Rutsch 8 , Gloria Scarselli 3 , Glenda Sobey 5 , Anthony Vandersteen 9 , Fleur S van Dijk 1
Affiliation  

Arthrochalasia Ehlers-Danlos syndrome (aEDS) is a rare autosomal dominant connective tissue disorder that is characterized by congenital bilateral hip dislocations, severe generalized joint hypermobility, recurrent joint (sub)luxations, and skin hyperextensibility. To date, 42 patients with aEDS have been published. We report 12 patients with aEDS from 10 families with 6 unpublished individuals and follow-up data on 6 adult patients. The clinical features are largely comparable with patients reported in the literature. Most (n = 10) patients had variants leading to (partial) loss of exon 6 of the COL1A1 or COL1A2 genes. One patient did not have a previously reported likely pathogenic COL1A1 variant. Data regarding management were retrieved. Hip surgery was performed in 5/12 patients and 3/12 patients underwent spinal surgery. As much as 4/12 patients were wheelchair-bound or unable to walk unaided. Fractures were present in 9/12 individuals with 1 patient requiring bisphosphonate treatment. Echocardiograms were performed in 10 patients and 2 individuals showed an abnormality likely unrelated to aEDS. One patient gave birth to two affected children and went through preterm labor requiring medication but had no additional complications. Of the eight adults in our cohort, the majority entered a career. Our data point toward a genotype-phenotype relationship with individuals with aEDS due to pathogenic COL1A1 variants causing complete or partial loss of exon 6 being more severely affected regarding musculoskeletal features. There is a significant lack of knowledge with regard to management of aEDS, particularly in adulthood. As such, systematic follow-up and multidisciplinary treatment is essential.

中文翻译:

临床特征,分子结果和对12名罕见的关节炎性Ehlers-Danlos综合征患者的管理。

Arthrochalasia Ehlers-Danlos综合征(aEDS)是一种罕见的常染色体显性结缔组织病,其特征为先天性双侧髋关节脱位,严重的全身性关节过度活动,关节(半)脱位和皮肤过度伸展。迄今为止,已经发表了42例aEDS患者。我们报告了来自10个家庭的6名未发表个体的12例aEDS患者,并对6名成年患者进行了随访。临床特征与文献报道的患者大致相当。大多数(n = 10)患者的变体导致(部分)丢失COL1A1或COL1A2基因的第6外显子。一名患者没有先前报道的可能的致病性COL1A1变体。检索有关管理的数据。在5/12例患者中进行了髋关节手术,在3/12例中进行了脊柱外科手术。多达4/12的患者被轮椅束缚或无法独立行走。9/12个人中出现骨折,其中1名患者需要双膦酸盐治疗。在10例患者中进行了超声心动图检查,其中2例患者表现出可能与aEDS无关的异常。一名患者生了两个受影响的孩子,并接受了药物治疗的早产,但没有其他并发症。在我们这个队列中的八个成年人中,大多数进入了职业。我们的数据表明,由于致病性COL1A1变异导致外显子6完全或部分丢失,而与aEDS个体之间存在基因型-表型关系,这在肌肉骨骼特征方面受到更严重的影响。尤其是在成年期,关于自动EDS管理的知识非常缺乏。因此,
更新日期:2020-04-21
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