A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3

Hum Mol Genet. 1996 Jun;5(6):843-7. doi: 10.1093/hmg/5.6.843.


Knobloch syndrome (KS), characterized by high myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities and occipital encephalocele, was recently confirmed as autosomal recessive. Here we report the assignment of the gene for this syndrome to 21q22.3 with the marker D21S171 through homozygosity mapping in a highly inbred Brazilian family with 11 affected individuals. A total of nine markers spanning a region of 15.2 cM of the chromosome 21q22.3 were tested and the candidate region was restricted to an interval of 4.3 cM.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 21*
  • Encephalocele / genetics
  • Female
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Male
  • Occipital Bone / abnormalities
  • Pedigree
  • Retinal Diseases / genetics
  • Syndrome