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Study on KAL1 Gene Mutations in Idiopathic Hypogonadotropic Hypogonadism Patients with X-Linked Recessive Inheritance.

Ahmadzadeh A, Ghods E, Mojarrad M, Aboutorabi R, Afkhamizadeh M, Bonakdaran S, Mosavi Z, Taghavi SM, Hassanzadeh Nazarabadi M - Int J Mol Cell Med (2015)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical Genetics, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran.

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.

No MeSH data available.


Related in: MedlinePlus

Representative agarose gel (2%) indicating Exon 5 deletion. Length of presented band is 303 bp. 100bp DNA size marker was used to estimate PCR product bands. PC= Positive control. NC= Negative control. P1= Patient no 1. P2= Patient no 2
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Figure 1: Representative agarose gel (2%) indicating Exon 5 deletion. Length of presented band is 303 bp. 100bp DNA size marker was used to estimate PCR product bands. PC= Positive control. NC= Negative control. P1= Patient no 1. P2= Patient no 2

Mentions: Upon PCR andysis we detected 5 male patients with hemizygous mutation. Deletion in exon 4 (1 case), exon 5 (2 cases) (figure 1), as well as complete deletion of exon 6 (2 cases) were detected as three distinct abnormalities (figure 2).


Study on KAL1 Gene Mutations in Idiopathic Hypogonadotropic Hypogonadism Patients with X-Linked Recessive Inheritance.

Ahmadzadeh A, Ghods E, Mojarrad M, Aboutorabi R, Afkhamizadeh M, Bonakdaran S, Mosavi Z, Taghavi SM, Hassanzadeh Nazarabadi M - Int J Mol Cell Med (2015)

Representative agarose gel (2%) indicating Exon 5 deletion. Length of presented band is 303 bp. 100bp DNA size marker was used to estimate PCR product bands. PC= Positive control. NC= Negative control. P1= Patient no 1. P2= Patient no 2
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4644526&req=5

Figure 1: Representative agarose gel (2%) indicating Exon 5 deletion. Length of presented band is 303 bp. 100bp DNA size marker was used to estimate PCR product bands. PC= Positive control. NC= Negative control. P1= Patient no 1. P2= Patient no 2
Mentions: Upon PCR andysis we detected 5 male patients with hemizygous mutation. Deletion in exon 4 (1 case), exon 5 (2 cases) (figure 1), as well as complete deletion of exon 6 (2 cases) were detected as three distinct abnormalities (figure 2).

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical Genetics, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran.

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.

No MeSH data available.


Related in: MedlinePlus