DELETIONS OF THE SURVIVAL MOTOR-NEURON GENE IN UNAFFECTED SIBLINGS OF PATIENTS WITH SPINAL MUSCULAR-ATROPHY

JM COBBEN, G VANDERSTEEGE, P GROOTSCHOLTEN, M DEVISSER, H SCHEFFER, CHCM BUYS

    Research output: Contribution to journalArticleAcademicpeer-review

    189 Citations (Scopus)

    Abstract

    DNA studies in 103 spinal muscular atrophy (SMA) patients from The Netherlands revealed homozygosity for a survival motor neuron (SMN) deletion in 96 (93%) of 103. Neuronal apoptosis inhibitory protein deletions were found in 38 (37%) of 103 and occurred most frequently in SMA type I. SMN deletions have not yet been described to occur in healthy subjects. In this study, however, four unaffected sibs from two SMA families showed homozygosity for SMN deletions. Homozygosity for an SMN deletion in unaffected persons seems to be very rare. Therefore, demonstration of a homozygous SMN deletion in a clinically presumed SMA patient should be considered as a confirmation of the diagnosis, whether or not SMN is in fact the causal gene for SMA.

    Original languageEnglish
    Pages (from-to)805-808
    Number of pages4
    JournalAmerican Journal of Human Genetics
    Volume57
    Issue number4
    Publication statusPublished - Oct-1995

    Keywords

    • FREQUENCY

    Cite this