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A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia

1 Jan 1995

Abstract excerpt

Leydig cell hypoplasia (LCH) is a form of male pseudohermaphroditism in which Leydig cell differentiation and testosterone production are impaired. This report describes the first case of a nonsense mutation (A1635C) in exon 11 of the human luteinizing hormone receptor (hLHR) gene in two sisters with LCH. This mutation causes loss of function of the receptor by introducing a stop codon at residue 545 in...

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PMID: 7581384
DOI: 10.1093/hmg/4.8.1429

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