Article
Inactivation of the luteinizing hormone/chorionic gonadotropin receptor by an insertional mutation in Leydig cell hypoplasia.
Molecular endocrinology (Baltimore, Md.) - 1 Nov 1998
Wu S M, Hallermeier K M, Laue L, Brain C, Berry A C, Grant D B, Griffin J E, Wilson J D, Cutler G B, Chan W Y
Abstract excerpt
We previously identified a nonsense mutation (Cys545Stop) in the paternal human LH/CG receptor (hLHR) allele in a family with two 46,XY children afflicted with Leydig cell hypoplasia. This mutation abolished the signal transduction capability of the affected hLHR. We have now examined all coding exons and the transcript of both alleles of the hLHR gene of the affected children. A 33-bp in-frame insertion was...
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