RESUMEN

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.

Asunto(s)

Cromosomas Humanos Par 17/genética , Rótula/anomalías , Adolescente , Adulto , Proteínas Portadoras , Niño , Mapeo Cromosómico , Anomalías Congénitas/diagnóstico , Anomalías Congénitas/genética , Análisis Mutacional de ADN , Salud de la Familia , Femenino , Genes Dominantes , Marcadores Genéticos , Humanos , Escala de Lod , Masculino , Datos de Secuencia Molecular , Síndrome de la Uña-Rótula/genética , Linaje , Proteínas/genética , Venezuela