X-linked mental retardation
By systematically sequencing 737 genes (annotated in the Vertebrate Genome Annotation database) on the human X chromosome in 250 families with X-linked mental retardation, we identified mutations in the UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B) leading to protein truncations in three families: two with the Lujan-Fryns phenotype and one with the FG phenotype.
By systematically sequencing 737 genes (annotated in the Vertebrate Genome Annotation database) on the human X chromosome in 250 families with <span class="disease" id="17704778-3-143-170">X-linked mental retardation</span>, we identified mutations in the <span class="gene" id="17704778-3-203-258">UPF3 regulator of nonsense transcripts homolog B (yeast</span>) (<span class="gene" id="17704778-3-261-266">UPF3B</span>) leading to protein truncations in three families: two with the Lujan-Fryns phenotype and one with the FG phenotype.