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:: Volume 4, Issue 3 (Int J Mol Cell Med 2015) ::
Int J Mol Cell Med 2015, 4(3): 152-159 Back to browse issues page
Study on KAL1 Gene Mutations in Idiopathic Hypogonadotropic Hypogonadism Patients with X-Linked Recessive Inheritance
Atefeh Ahmadzadeh1, Elahe Ghods1, Majid Mojarrad2, Robab Aboutorabi3, Mojgan Afkhamizadeh3, Shokoofeh Bonakdaran3, Zohreh Mosavi3, Seyed Morteza Taghavi3, Mohammad Hassanzadeh Nazarabadi *4
1- Department of Medical Genetics, Mashhad University of Medical Sciences, Mashhad, Iran., Department of Medical Genetics, Mashhad University of Medical Sciences, Mashhad, Iran.
2- Department of Medical Genetics, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran., Department of Medical Genetics, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran.
3- Department of Endocrinology Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran., Department of Endocrinology Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
4- Department of Medical Genetics, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran., Department of Medical Genetics, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran. , NazarabadiM@mums.ac.ir
Abstract:   (4783 Views)

Idiopathic hypogonadotropic hypogonadism (IHH) is a condition caused by low doses of hypothalamic gonadotropin-releasing hormone (GnRH) leading to absence or incomplete sexual maturation. One of the disorders leading to IHH is Kallmann syndrome which is characterized by GnRH deficiency with anosmia or hyposmia. This disorder generally occurs as a hereditary syndrome with X-linked recessive inheritance pattern. However, autosomal dominant or recessive and sporadic cases have also been reported. KAL1 is the most common mutated gene among these patients. The aim of this study was to determine the mutation spectrum of KAL1 gene in twenty patients. KAL1 exons were amplified by PCR technique and the products were assessed by high resolution melting (HRM) technique. In addition, for one of the patients, all coding exons of the KAL1 gene were sequenced. Deletion of exons 4, 5 and 6 were evident in 5%, 10%, and 10% of patients, respectively. Furthermore, HRM results showed hemizygous mutation of exon 12 with more than 95% probability in 25% of patients. Finding these mutations could be helpful in the early diagnosis and presymptomic treatment of Kallman syndrome.

Keywords: Idiopathic hypogonadotropic hypogonadism, kallmann syndrome, KAL1 gene, X-linked recessive, GnRH
Full-Text [PDF 1003 kb]   (1578 Downloads)    
Type of Study: Original Article | Subject: Genetics & Disease
Received: 2015/02/2 | Accepted: 2015/06/16 | Published: 2015/07/29
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Ahmadzadeh A, Ghods E, Mojarrad M, Aboutorabi R, Afkhamizadeh M, Bonakdaran S, et al . Study on KAL1 Gene Mutations in Idiopathic Hypogonadotropic Hypogonadism Patients with X-Linked Recessive Inheritance. Int J Mol Cell Med. 2015; 4 (3) :152-159
URL: http://ijmcmed.org/article-1-291-en.html


Volume 4, Issue 3 (Int J Mol Cell Med 2015) Back to browse issues page
International Journal of Molecular and Cellular Medicine (IJMCM) International Journal of Molecular and Cellular Medicine (IJMCM)
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