Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family

Francesco Danilo Tiziano, Giovanni Neri, Cristina Beate Brahe, S Zappata

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)

Abstract

Recently, a gene determining spinal muscular atrophy (SMA), termed survival motor neuron (SMN) gene, has been isolated from the 5q13 region. This gene has been found to be deleted in most patients with childhood-onset SMA. We have studied the SMN gene in a clinically heterogeneous family, including one patient affected by infantile chronic SMA and three subjects with mild adult-onset muscle weakness. Deletions in the SMN gene were detected in all of these patients, indicating that the childhood and adult SMAs are genetically homogeneous in this family. Genotyping of the family members established that the three mildly affected individuals were homozygous for the same haplotype from the SMA region, whereas the more severely affected patient was heterozygous with one different haplotype.
Original languageEnglish
Pages (from-to)315-318
Number of pages4
JournalHuman Genetics
Publication statusPublished - 1996

Keywords

  • sma
  • smn

Fingerprint

Dive into the research topics of 'Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family'. Together they form a unique fingerprint.

Cite this