title: Study on KAL1 Gene Mutations in Idiopathic Hypogonadotropic Hypogonadism Patients with X-Linked Recessive Inheritance.
abstract: 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 method 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.
authors.affiliation: Department of Medical Genetics, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Atefeh
authors.initials: A
authors.lastname: Ahmadzadeh
authors.affiliation: Department of Medical Genetics, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Elahe
authors.initials: E
authors.lastname: Ghods
authors.affiliation: Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Majid
authors.initials: M
authors.lastname: Mojarrad
authors.affiliation: Department of Endocrinology Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Robab
authors.initials: R
authors.lastname: Aboutorabi
authors.affiliation: Department of Endocrinology Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Mojgan
authors.initials: M
authors.lastname: Afkhamizadeh
authors.affiliation: Department of Endocrinology Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Shokoofeh
authors.initials: S
authors.lastname: Bonakdaran
authors.affiliation: Department of Endocrinology Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Zohreh
authors.initials: Z
authors.lastname: Mosavi
authors.affiliation: Department of Endocrinology Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Seyed Morteza
authors.initials: SM
authors.lastname: Taghavi
authors.affiliation: Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Hassanzadeh Nazarabadi
keywords: GnRH; Idiopathic hypogonadotropic hypogonadism; KAL1 gene; X-linked recessive; kallmann syndrome