Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22

Am J Hum Genet. 1999 Aug;65(2):441-7. doi: 10.1086/302505.


Patella aplasia-hypoplasia (PTLAH) is a rare genetic defect characterized by congenital absence or marked reduction of the patella. PTLAH can occur either as an isolated defect or in association with other malformations, and it characteristically occurs in the nail-patella syndrome and in some chromosome imbalances. We report the first evidence of linkage for isolated PTLAH in an extended Venezuelan family. After exclusion of the candidate chromosome regions where disorders associated with PTLAH have been mapped, a genomewide scan was performed that supported mapping of the disease locus within a region of 12 cM on chromosome 17q22. Two marker loci (D17S787 and D17S1604) typed from this region gave maximum LOD scores >3. Accordingly, multipoint analysis gave a maximum LOD score of 3.39, with a most likely location for the disease gene between D17S787 and D17S1604. Sequencing of the noggin gene, a candidate mapping between these markers, failed to reveal any mutation in affected subjects.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Carrier Proteins
  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 17 / genetics*
  • Congenital Abnormalities / diagnosis
  • Congenital Abnormalities / genetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Genes, Dominant
  • Genetic Markers
  • Humans
  • Lod Score
  • Male
  • Molecular Sequence Data
  • Nail-Patella Syndrome / genetics
  • Patella / abnormalities*
  • Pedigree
  • Proteins / genetics
  • Venezuela


  • Carrier Proteins
  • Genetic Markers
  • Proteins
  • noggin protein

Associated data

  • OMIM/161200
  • OMIM/168860