Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA

Authors
Skordis, LA Dunckley, MG Burglen, L Campbell, L Talbot, K Patel, S Melki, J Davies, KE Dubowitz, V Muntoni, F
Citation
La. Skordis et al., Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA, HUM GENET, 108(4), 2001, pp. 356-357
Citations number
7
Categorie Soggetti
Molecular Biology & Genetics
Journal title
HUMAN GENETICS
ISSN journal
03406717 → ACNP
Volume
108
Issue
4
Year of publication
2001
Pages
356 - 357
Database
ISI
SICI code
0340-6717(200104)108:4<356:CONPMI>2.0.ZU;2-U
Abstract
We report two novel mutations in three cases of spinal muscular atrophy (SM A), including two distant cousins who followed an unexpectedly severe cours e. Diagnosis was confirmed by reduced SMN protein and full-length SMN mRNA levels. Sequencing of the non-deleted SMN1 gene revealed a single G inserti on at the end of exon 1 in the two cousins and a novel G275S exon 6 missens e mutation in the milder case.