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

被引：55

作者：

Burglen, L

Amiel, J

Viollet, L

Lefebvre, S

Burlet, P

Clermont, O

Raclin, V

Landrieu, P

Verloes, A

Munnich, A

Melki, J

机构：

[1] HOP ENFANTS MALAD,INSERM U393,UNITE RECH HANDICAPS GENET ENFANT,IFREM,INST NECKER,F-75743 PARIS 15,FRANCE

[2] HOP KREMLIN BICETRE,DEPT PEDIAT,LE KREMLIN BICETR,FRANCE

[3] UNIV LIEGE,CTR GENET,B-4000 LIEGE,BELGIUM

来源：

JOURNAL OF CLINICAL INVESTIGATION | 1996年 / 98卷 / 05期

关键词：

D O I：

10.1172/JCI118895

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

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.

引用

页码：1130 / 1132

页数：3