Genetics of classic Alport's syndrome

Lancet. 1988 Oct 29;2(8618):1005-7. doi: 10.1016/s0140-6736(88)90753-2.


41 families with classic Alport's syndrome (hereditary nephritis with sensorineural deafness) were studied. All their pedigrees were compatible with X-linked inheritance. DNA probes were used to investigate genetic linkage in these families. Linkage to probe S21 (DXS17) was confirmed (LOD score = 4.72 at 0 = 0.06), localising the gene for Alport's syndrome to the middle of Xq; thus the disorder is X-chromosomal in nature.

Publication types

  • Review

MeSH terms

  • Adult
  • Chromosome Mapping
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Nephritis, Hereditary / complications
  • Nephritis, Hereditary / genetics*
  • Nephritis, Hereditary / pathology
  • Sex Factors
  • X Chromosome