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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Novel Mutations Involving the INSL3 Gene Associated With Cryptorchidism
Journal of Urology, Volume 177, No. 5, Year 2007
Notification
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Description
Purpose: Cryptorchidism affects 1% to 9% of full-term male neonates. Hypospadias is the second most frequent congenital anomaly seen in newborn males. These pathological conditions are part of the testicular dysgenesis syndrome. Insulin-like factor 3 and LGR8 (leucine-rich repeat-containing G protein-coupled receptor 8), acting as a hormone and a receptor, respectively, are involved in control of the first phase of testicular descent via gubernacular development. Materials and Methods: The study group consisted of 184 patients, of whom 52 presented with unilateral cryptorchidism, 37 presented with bilateral cryptorchidism, 19 presented with cryptorchidism and hypospadias, 1 presented with bilateral cryptorchidism and micropenis, and 75 presented with isolated hypospadias. A control panel consisted of 270 controls, including 127 fertile, and 143 fertile noncryptorchid males. Insulin-like factor 3 mutations were analyzed by direct sequencing and restriction enzyme digestion. We analyzed the ability of the mutant insulin-like factor 3 peptides identified in this study to activate LGR8 receptor in an ex vivo assays. Results: We identified 3 novel insulin-like factor 3 variants, including C-19G, V18M and R105H, in 3 of the 109 patients (2.75%) but in none of the 270 controls. The V18M mutation in the insulin-like factor 3 signal peptide had a significant deleterious effect in activating LGR8 receptor in ex vivo studies (p <0.05). To our knowledge we report the first variant in the promoter region of the insulin-like factor 3 gene in a patient with cryptorchidism in association with micropenis. Conclusions: Mutations involving the insulin-like factor 3 gene may contribute to other anomalies of male genital development, such as micropenis. © 2007 American Urological Association.
Authors & Co-Authors
El Houate, B.
Morocco, Casablanca
Institut Pasteur du Maroc
Morocco, El Jadida
Faculté Des Sciences D'el Jadida
France, Paris
Institut Pasteur, Paris
Rouba, Hassan
Morocco, Casablanca
Institut Pasteur du Maroc
Sibaï, Hicham
Morocco, Casablanca
Centre Hospitalier Universitaire Ibn Rochd
Barakat, Abdelhamid
Morocco, Casablanca
Institut Pasteur du Maroc
Chafik, Abdelaziz
Morocco, El Jadida
Faculté Des Sciences D'el Jadida
Chadli, Elbakkay Bekkay
Morocco, Casablanca
Institut Pasteur du Maroc
Imken, Laila
Morocco, El Jadida
Faculté Des Sciences D'el Jadida
Bogatcheva, Natalia V.
United States, Houston
Baylor College of Medicine
Feng, Shu
United States, Houston
Baylor College of Medicine
Agoulnik, Alexander I.
United States, Houston
Baylor College of Medicine
McElreavey, Ken D.
France, Paris
Institut Pasteur, Paris
Statistics
Citations: 53
Authors: 11
Affiliations: 5
Identifiers
Doi:
10.1016/j.juro.2007.01.002
ISSN:
00225347
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Sexual And Reproductive Health
Participants Gender
Male