Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel

Genet Test. 2008 Mar;12(1):53-6. doi: 10.1089/gte.2007.0030.


Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by progressive muscle weakness. It is caused by a mutation in the survival motor neuron gene 1 (SMN1) gene. SMA with respiratory distress 1 (SMARD1), an uncommon variant of infantile SMA also inherited in an autosomal recessive manner, is caused by mutations in the immunoglobulin mu-binding protein 2 (IGHMBP2) gene. We carried out genetic carrier screening among the residents of an isolated Israeli Arab village with a high frequency of SMA in order to identify carriers of SMA type I and SMARD1. During 2006, 168 women were tested for SMA, of whom 13.1% were found to be carriers. Of 111 women tested for SMARD1, 9.9% were found to be carriers. Prenatal diagnosis was performed in one couple where both spouses were carriers of SMARD1; the fetus was found to be affected, and the pregnancy was terminated. To the best of our knowledge, this is the first example of the establishment of a large-scale carrier-screening program for SMA and SMARD1 in an isolated population. SMA has a carrier frequency of 1:33-1:60 in most populations and should be considered for inclusion in a population-based genetic-screening program.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arabs / genetics
  • Base Sequence
  • Cyclic AMP Response Element-Binding Protein / genetics*
  • DNA Mutational Analysis / methods
  • DNA Primers / genetics
  • DNA-Binding Proteins / genetics*
  • Female
  • Genes, Recessive
  • Genetic Carrier Screening / methods*
  • Genetic Testing / methods*
  • Genetics, Population
  • Humans
  • Israel
  • Male
  • Muscular Atrophy, Spinal / diagnosis
  • Muscular Atrophy, Spinal / genetics*
  • Mutation
  • Nerve Tissue Proteins / genetics*
  • Pregnancy
  • Prenatal Diagnosis
  • RNA-Binding Proteins / genetics*
  • SMN Complex Proteins
  • Survival of Motor Neuron 1 Protein
  • Transcription Factors / genetics*


  • Cyclic AMP Response Element-Binding Protein
  • DNA Primers
  • DNA-Binding Proteins
  • IGHMBP2 protein, human
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • SMN Complex Proteins
  • SMN1 protein, human
  • Survival of Motor Neuron 1 Protein
  • Transcription Factors