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先天性多发性关节挛缩症 - 脊髓性肌萎缩症关联中生存运动神经元基因缺失

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

作者信息

Bürglen L, Amiel J, Viollet L, Lefebvre S, Burlet P, Clermont O, Raclin V, Landrieu P, Verloes A, Munnich A, Melki J

机构信息

Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM, Unité 393, Hôpital des Enfants Malades, Paris, France.

出版信息

J Clin Invest. 1996 Sep 1;98(5):1130-2. doi: 10.1172/JCI118895.

DOI:10.1172/JCI118895
PMID:8787675
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC507534/
Abstract

The survival motor neuron (SMN) gene was lacking in 6/12 patients with arthrogryposis multiplex congenita (AMC) associated with spinal muscular atrophy (SMA). Neither point mutation in the SMN gene nor evidence for linkage to chromosome 5q13 were found in the other patients. Hitherto, arthrogryposis was regarded as an exclusion criterion in SMA. Our data strongly suggest that AMC of neurogenic origin is genetically heterogeneous, with a subgroup being allelic to SMA. Absence or interruption of the SMN gene in the AMC-SMA association will make the diagnosis easier and genetic counselling will now become feasible.

摘要

在6/12例与脊髓性肌萎缩症（SMA）相关的先天性多发性关节挛缩症（AMC）患者中，生存运动神经元（SMN）基因缺失。在其他患者中未发现SMN基因的点突变，也未发现与5号染色体q13连锁的证据。迄今为止，关节挛缩症被视为SMA的排除标准。我们的数据强烈表明，神经源性AMC在遗传上是异质性的，其中一个亚组与SMA等位基因相关。AMC-SMA关联中SMN基因的缺失或中断将使诊断更容易，并且现在遗传咨询将变得可行。