一个黑人克里奥尔人谱系中的贝斯勒姆肌病。
Bethlem myopathy in a black creole pedigree.
作者信息
Adams Cameron R, Figueroa Karla P, Zu Lan, Anderson Thomas L, Graves Michael C, Garcia Carlos A, Pulst Stefan-M
机构信息
From the *Division of Neurology, Cedars-Sinai Medical Center; Los Angeles, California; the daggerDepartment of Neurology, UCLA; Los Angeles, California; and the double daggerDepartment of Neurology, Tulane University, New Orleans, Louisiana.
出版信息
J Clin Neuromuscul Dis. 2002 Sep;4(1):7-10. doi: 10.1097/00131402-200209000-00002.
OBJECTIVES
To analyze the clinical and molecular features of a distinctive muscular dystrophy in a family of black Creole descent.
METHODS
We clinically characterized a four-generation pedigree and performed linkage analysis for all relevant autosomal-dominant muscular dystrophies.
RESULTS
Affected family members had minor neurologic dissimilarities from previously reported Bethlem myopathy pedigrees and a high incidence of keloid formation. Multipoint linkage analysis traced the family's disease to the region of the collagen genes COL6A1-COL6A2.
CONCLUSIONS
We report that Bethlem myopathy was linked to the collagen VIA1-2 region on chromosome 21q22.3 in a black Creole family. This is the first report of molecular-proven Bethlem myopathy in a family of either Creole or African-American descent. Although the correlation of Bethlem myopathy and keloids was not statistically significant, the possible connection between these two abnormalities raises the possibility of a common pathophysiological link involving collage VIA.
目的
分析一个具有黑人克里奥尔人血统的家族中一种独特的肌肉萎缩症的临床和分子特征。
方法
我们对一个四代家系进行了临床特征分析，并对所有相关的常染色体显性遗传性肌肉萎缩症进行了连锁分析。
结果
受影响的家庭成员与先前报道的贝斯勒姆肌病家系在神经方面存在细微差异，且瘢痕疙瘩形成的发生率较高。多点连锁分析将该家族疾病追溯至胶原蛋白基因COL6A1 - COL6A2区域。
结论
我们报告在一个黑人克里奥尔人家族中，贝斯勒姆肌病与21号染色体q22.3上的胶原蛋白VIA1 - 2区域相关联。这是首次在克里奥尔人或非裔美国家族中分子证实的贝斯勒姆肌病报告。尽管贝斯勒姆肌病与瘢痕疙瘩的相关性无统计学意义，但这两种异常之间可能的联系提示存在涉及胶原蛋白VIA的共同病理生理联系。
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