A novel double mutation in the luteinizing hormone receptor in a kindred with familial Leydig cell hypoplasia and male pseudohermaphroditism.

Abstract:

:We report a novel mutant of the luteinizing hormone receptor (LHR) in a case of familial Leydig cell hypoplasia and pseudohermaphrotidism. The proband was homozygous for two missense mutations, T1121C and C1175T, causing substitutions I374T and T3921. The molecular effects of the mutations were investigated by heterologous expression of the WT LHR, the double mutant LHR, or receptors with either the I374T or the T392I mutation, and measuring hormone binding and cAMP signaling. All mutant LHRs exhibited severe defects, including loss of ligand binding and cAMP production. Immunoblots showed little difference in protein levels between the WT and mutant receptors.

journal_name

Endocr Res

journal_title

Endocrine research

authors

Pals-Rylaarsdam R,Liu G,Brickman W,Duranteau L,Monroe J,El-Awady MK,Gad YZ,Shenker A

doi

10.1080/07435800500430890

subject

Has Abstract

pub_date

2005-01-01 00:00:00

pages

307-23

issue

4

eissn

0743-5800

issn

1532-4206

journal_volume

31

pub_type

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