Ontology highlight
ABSTRACT:
SUBMITTER: Kim HG
PROVIDER: S-EPMC2948809 | biostudies-literature | 2010 Oct
REPOSITORIES: biostudies-literature
American journal of human genetics 20101001 4
By defining the chromosomal breakpoint of a balanced t(10;12) translocation from a subject with Kallmann syndrome and scanning genes in its vicinity in unrelated hypogonadal subjects, we have identified WDR11 as a gene involved in human puberty. We found six patients with a total of five different heterozygous WDR11 missense mutations, including three alterations (A435T, R448Q, and H690Q) in WD domains important for β propeller formation and protein-protein interaction. In addition, we discovere ...[more]