Study on KAL1 Gene Mutations in Idiopathic Hypogonadotropic Hypogonadism Patients with X-Linked Recessive Inheritance
نویسندگان
چکیده مقاله:
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.
منابع مشابه
study on kal1 gene mutations in idiopathic hypogonadotropic hypogonadism patients with x-linked recessive inheritance
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 inhe...
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From the Developmental Endocrinology Branch, National Institute of Child Health and Human Development (D.P.M., T.T., J.B., G.B.C.); and the U.S. Public Health Service (D.P.M., J.B.) — both in Bethesda, Md. Address reprint requests to Dr. Merke at DEB/NICHD/NIH, Bldg. 10, Rm. 10N262, 10 Center Dr., MSC 1862, Bethesda, MD 20892-1862, or at [email protected]. ©1999, Massachusetts Medical Socie...
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عنوان ژورنال
دوره 4 شماره None
صفحات 152- 159
تاریخ انتشار 2015-07
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