Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13

Am J Hum Genet. 1999 Dec;65(6):1711-7. doi: 10.1086/302654.


Fechtner syndrome is an autosomal-dominant variant of Alport syndrome, manifested by nephritis, sensorineural hearing loss, cataract formation, macrothrombocytopenia, and polymorphonuclear inclusion bodies. As opposed to autosomal-recessive and X-linked Alport syndromes, which have been genetically well studied, the genetic basis of Fechtner syndrome remains elusive. We have mapped the disease-causing gene to the long arm of chromosome 22 in an extended Israeli family with Fechtner syndrome plus impaired liver functions and hypercholesterolemia in some individuals. Six markers from chromosome 22q yielded a LOD score >3.00. A maximum two-point LOD score of 7.02 was obtained with the marker D22S283 at a recombination fraction of 0. Recombination analysis placed the disease-causing gene in a 5.5-Mb interval between the markers D22S284 and D22S1167. No collagen genes or genes comprising the basement membrane have been mapped to this region.

MeSH terms

  • Alleles
  • Chromosomes, Human, Pair 22 / genetics*
  • Collagen / genetics
  • Female
  • Gene Frequency
  • Genes, Dominant / genetics*
  • Genetic Linkage / genetics*
  • Humans
  • Hypercholesterolemia / genetics
  • Inclusion Bodies*
  • Israel
  • Leukocytes / pathology*
  • Liver / physiopathology
  • Male
  • Microsatellite Repeats / genetics
  • Nephritis, Hereditary / genetics*
  • Nephritis, Hereditary / pathology
  • Nephritis, Hereditary / physiopathology
  • Pedigree
  • Polymorphism, Genetic / genetics
  • Recombination, Genetic / genetics
  • Syndrome
  • Thrombocytopenia / genetics*
  • Thrombocytopenia / pathology


  • Collagen