International Journal of Molecular and Cellular Medicine
مجله بین المللی سلولی و مولکولی
Int J Mol Cell Med
Medical Sciences
http://ijmcmed.org
1
admin
2251-9637
2251-9645
10.22088/IJMCM.BUMS
en
jalali
1394
4
1
gregorian
2015
7
1
4
3
online
1
fulltext
en
Study on KAL1 Gene Mutations in Idiopathic Hypogonadotropic Hypogonadism Patients with X-Linked Recessive Inheritance
Genetics & Disease
Genetics & Disease
Original Article
Original Article
<p>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.</p>
Idiopathic hypogonadotropic hypogonadism, kallmann syndrome, KAL1 gene, X-linked recessive, GnRH
152
159
http://ijmcmed.org/browse.php?a_code=A-10-62-7&slc_lang=en&sid=1
Atefeh
Ahmadzadeh
10031947532846005478
10031947532846005478
No
Department of Medical Genetics, Mashhad University of Medical Sciences, Mashhad, Iran.
Elahe
Ghods
10031947532846005479
10031947532846005479
No
Department of Medical Genetics, Mashhad University of Medical Sciences, Mashhad, Iran.
Majid
Mojarrad
10031947532846005480
10031947532846005480
No
Department of Medical Genetics, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran.
Robab
Aboutorabi
10031947532846005481
10031947532846005481
No
Department of Endocrinology Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
Mojgan
Afkhamizadeh
10031947532846005482
10031947532846005482
No
Department of Endocrinology Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
Shokoofeh
Bonakdaran
10031947532846005483
10031947532846005483
No
Department of Endocrinology Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
Zohreh
Mosavi
10031947532846005484
10031947532846005484
No
Department of Endocrinology Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
Seyed Morteza
Taghavi
10031947532846005485
10031947532846005485
No
Department of Endocrinology Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
Mohammad
Hassanzadeh Nazarabadi
NazarabadiM@mums.ac.ir
10031947532846005486
10031947532846005486
Yes
Department of Medical Genetics, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran.