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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
The leucine-rich repeat-containing G protein-coupled receptor 8 gene T222P mutation does not cause cryptorchidism
Journal of Clinical Endocrinology and Metabolism, Volume 93, No. 3, Year 2008
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Description
Context: Insulin-like 3 and its receptor, leucine-rich repeat-containing G protein-coupled receptor 8 (LGR8), are essential for the first phase of testicular descent. Homozygous loss of either of the two genes in mice leads to cryptorchidism. Although mutations in both homologous human genes are not a common cause of cryptorchidism. To date, only one missense mutation at codon 222 (T222P) of the LGR8 gene has been proposed as a causative mutation for cryptorchidism. This conclusion was based on both functional in vitro studies and the lack of mutation in a large group of controls. The geographical origin of the mutation carriers suggested a founder effect in the Mediterranean area. Objectives: We sought to define the frequency of the T222P mutation in four different countries to assess whether the screening for this mutation could be of use as a diagnostic genetic test. Materials and Methods: A total of 822 subjects (359 with a history of cryptorchidism and 463 controls) from Italy, Spain, Hungary, and Egypt were genotyped for the T222P mutation by direct sequencing. Results: The phenotypical expression of the mutation also included normal testicular descent. The mutation frequency was not significantly different in cryptorchid patients vs. noncryptorchid controls (3.6 vs. 1.7%, respectively). No significant geographical differences were observed in mutation frequencies. The haplotype analysis allowed us to predict three distinct haplotypes, i.e. three possible mutation events. Conclusions: Our results suggest that the T222P mutation cannot be considered either causative or a susceptibility factor for cryptorchidism. A true causative mutation in the LGR8 gene still remains to be identified. Copyright © 2008 by The Endocrine Society.
Authors & Co-Authors
Nuti, Francesca
Italy, Florence
Università Degli Studi Di Firenze
Marinari, Eliana
Italy, Florence
Università Degli Studi Di Firenze
Erdei, Edit
Hungary, Budapest
National Health Center
El-Hamshari, Manal
Egypt, Shibin el Kom
Menoufia University
Echavarria, Mirna Guadalupe
Spain, Barcelona
Fundacio Puigvert
Ars, Elisabet
Spain, Barcelona
Fundacio Puigvert
Balercia, Giancarlo
Italy, Ancona
Università Politecnica Delle Marche
Merksz, Miklos
Hungary, Budapest
Heim Pál Children's Hospital
Giachini, Claudia
Italy, Florence
Università Degli Studi Di Firenze
Shaeer, Kamal Zaki Mahmoud
Egypt, Cairo
Faculty of Medicine
Forti, Gianni
Italy, Florence
Università Degli Studi Di Firenze
Ruiz-Castané, Eduard
Spain, Barcelona
Fundacio Puigvert
Krausz, Csilla
Italy, Florence
Università Degli Studi Di Firenze
Spain, Barcelona
Fundacio Puigvert
Statistics
Citations: 32
Authors: 13
Affiliations: 7
Identifiers
Doi:
10.1210/jc.2007-1993
ISSN:
0021972X
e-ISSN:
0021972X
Research Areas
Cancer
Genetics And Genomics
Study Locations
Egypt