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

Massimo Mangino, Otto Sanchez, Isabella Torrente, Alessandro De Luca, Francesca Capon, Giuseppe Novelli, Bruno Dallapiccola

Research output: Contribution to journalArticle


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.

Original languageEnglish
Pages (from-to)441-447
Number of pages7
JournalAmerican Journal of Human Genetics
Issue number2
Publication statusPublished - 1999

ASJC Scopus subject areas

  • Genetics

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