首页 | 本学科首页   官方微博 | 高级检索  
   检索      


Different entities of proximal spinal muscular atrophy within one family
Authors:B Wirth  D Tessarolo  E Hahnen  S Rudnik-Schöneborn  H Raschke  M Liguori  M Giacanelli  K Zerres
Institution:(1) Institute of Human Genetics, Wilhelmstrasse 31, D-53111 Bonn, Germany Tel.: +49-228-2872344; Fax: +49-228-2872380; e-mail: bwirth@uni-bonn.de, DE;(2) S. Camilio Hospital, Department of Neuroscience, Service of Neuromuscular Diseases, I-00149 Rome, Italy, IT
Abstract: The molecular analysis of the survival motor neuron (SMN) gene and several closely flanking polymorphic markers in an atypical pedigree with four patients suffering from spinal muscular atrophy (SMA) over two generations has raised new aspects concerning the etiology and the molecular spectrum of autosomal recessive SMA. Three patients in two generations show homozygous deletions of exons 7 and 8 of the telomeric copy of SMN (telSMN), thus confirming the presence of autosomal recessive SMA, with localisation on chromosome 5q12. The fourth SMA patient with mild neurogenic atrophy (confirmed by muscle biopsy and electromyography) shows no homozygous deletion of telSMN but carries a heterozygous deletion of telSMN, as can be deduced from her two affected homozygously deleted children. No intragenic mutation has been identified in the remaining telSMN. In addition, she shares only one SMA chromosome with her affected brother, is haploidentical with two healthy brothers, and has a 31-year-old healthy son, who has inherited an SMN-deleted paternal chromosome and the SMN non-deleted maternal chromosome. These results suggest that this patient either has a neurogenic atrophy of a different origin or exhibits an unusual heterozygous manifestation of SMA 5q12. Interestingly, the two haploidentical telSMN-deleted affected sibs in the second generation show a strikingly discordant clinical picture indicating that, in addition to telSMN mutations, other factors influence the phenotype of SMA in the reported pedigree. Received: 20 March 1997 / Accepted: 4 June 1997
Keywords:
本文献已被 SpringerLink 等数据库收录!
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号