A novel homozygous mutation in the second transmembrane domain of the gonadotrophin releasing hormone receptor gene

Clinical Endocrinology
D SöderlundJ P Méndez

Abstract

Mutations in the GnRH receptor (GnRH-R) gene cause hypogonadotrophic hypogonadism. Here, we present the molecular studies of the GnRH-R gene in three families with isolated hypogonadotrophic hypogonadism. Three unrelated families, with at least two members diagnosed with isolated hypogonadotrophic hypogonadism were included. DNA sequencing was performed after polymerase chain reaction amplification of each of the three exons of the gene. A novel homozygous missense mutation, at nucleotide 268, turning glutamic acid into lysine, located at the second transmembrane domain of the GnRH-R gene was found in two patients pertaining to one of the families studied. Both parents and an unaffected brother were heterozygous carriers of one mutant allele, an unaffected sister was homozygote wild type. In the other two affected families no mutations were found in the GnRH-R gene. This constitutes the first description of an spontaneous mutation located at the second transmembrane domain (Glu90Lys) of the GnRH-R, indicating that the integrity of glutamic acid at this position is crucial for receptor function. Also this report, complementing others, demonstrates that mutations are distributed throughout the GnRH-R gene and that as in the only ...Continue Reading

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Citations

Aug 2, 2003·Molecular and Cellular Endocrinology·Grégoy Y BédécarratsUrsula B Kaiser
Mar 9, 2010·European Journal of Endocrinology·Frédéric BrioudeJacques Young
Jun 8, 2011·Molecular and Cellular Endocrinology·L ChevrierN de Roux
Mar 2, 2010·Molecular and Cellular Endocrinology·Leticia Ferreira Gontijo SilveiraAna Claudia Latronico
Dec 13, 2006·Best Practice & Research. Clinical Endocrinology & Metabolism·Nicolas de Roux
Jun 29, 2013·Molecular and Cellular Endocrinology·Alfredo Ulloa-AguirreP Michael Conn
Jun 13, 2015·Trends in Pharmacological Sciences·P Michael ConnJo Ann Janovick
May 4, 2002·Best Practice & Research. Clinical Endocrinology & Metabolism·Ilpo T Huhtaniemi
Oct 20, 2011·Nature Reviews. Endocrinology·Claire BouvattierJacques Young
Nov 13, 2004·Endocrine Reviews·Cecilia Castro-FernándezP Michael Conn
Apr 15, 2004·Endocrine Reviews·Robert P MillarStuart R Maudsley
Mar 26, 2014·Endocrine Reviews·Ya-Xiong Tao, P Michael Conn
Dec 16, 2006·ACS Chemical Biology·Alfredo Ulloa-AguirreP Michael Conn

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