This site is intended for healthcare professionals
  • Home
  • /
  • Journals
  • /
  • Other hereditary or degenerative neurological diso...
  • /
  • Multiplex ligation-dependent probe amplification i...
Journal

Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy.

Read time: 1 mins
Published:1st Dec 2006
Author: Arkblad EL, Darin N, Berg K, Kimber E, Brandberg G, Lindberg C et al.
Availability: Pay for access, or by subscription
Ref.:Neuromuscul Disord. 2006;16(12):830-8.
DOI:10.1016/j.nmd.2006.08.011

Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by decreased levels of survival motor neuron protein (SMN). In the majority of cases, this decrease is due to absence of the SMN1 gene. Multiplex ligation-dependent probe amplification (MLPA) is a modern quantitative molecular method. Applied in SMA cases, it improves diagnostics by simultaneously identifying the number of copies of several target sequences in the SMN1 gene and in nearby genes.

Using MLPA in clinical diagnostics, we have identified a previously unreported, partial deletion of SMN1 (exons 1–6) in two apparently unrelated Swedish families. This mutation would not have been detected by conventional diagnostic methods.

This paper illustrates the broad clinical and genetic spectrum of SMA and includes reports of MLPA results and clinical descriptions of a patient with homozygous absence of SMN1 and only one SMN2 (prenatal onset SMA type 1), an asymptomatic woman with five SMN2 (lacking SMN1) and representative patients with SMA types 1, 2 and 3.

Read abstract on library site

Access full article