A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation

Giuseppe Novelli, Sabrina Semprini, Francesca Capon, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

Childhood SMAs are common neuromuscular disorders, due to the occurrence of large genomic deletions encompassing the SMN gene and often extending to involve the NAIP gene. Although NAIP deletions are more frequently observed in patients affected by the acute form of the disease, it is not possible to establish an unambiguous correlation between deletion size and clinical severity. We have investigated the effects of gender on the association between NAIP gene deletion and disease severity. NAIP deletions were screened in 197 Italian SMA patients lacking SMN; the results obtained were correlated with disease severity in male and female samples separately. No significant relationship between deletion size and clinical phenotype was observed among male subjects, whereas in females the absence of NAIP was strongly associated with a severe phenotype (p

Original languageEnglish
Pages (from-to)29-30
Number of pages2
JournalNeurogenetics
Volume1
Issue number1
Publication statusPublished - 1997

Keywords

  • Genotype-phenotype correlation
  • NAIP
  • Sex gene deletion
  • SMN
  • Spinal muscular atrophy

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)

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