J Korean Soc Endocrinol.  1999 Dec;14(4):645-656.

KAL Gene and GnRH Receptor Gene Analysis in Patients with Kallmann's Syndrome

• Park KH
• Mo HJ
• Kim JY
• Kim JY
• Bae SW
• Lee BS
• Kim IK
• Kim SK
• Kim KA
• Ahn YH

Abstract

BACKGROUND: Kallmann's syndrome is related to the defect in migration of olfactory neuron and GnRH neuron from the olfactory placode to the brain and it represents hypogonadism with anosmia or hyposmia. There are 3 modes of transmission in Kallmann's syndrome: X-linked, autosomal recessive and autosomal dominant. X-linked form is the most common. KAL gene is responsible for the X-linked form of Kallmann's syndrome and it had been localized to Xp22.3. The intron-exon organization had been determined and KAL gene mutation had also been identified in familial Kallmann's syndrome and it is very rare and shows heterogeneity. Furthermore, in the sporadic cases, KAL gene mutation is more rare.
METHODS
In order to investigate the KAL gene mutation and the regulation of the gene expression in Kallmann's syndrome, we examined genomic DNA of 35 patients with sporadic Kallmann's syndrome. In the exon 3, 4, 5, 6, 7, 8, 9, 10, 11, 12 of KAL gene and 1, 2, 3 of GnRH receptor gene, the mutations were analyzed by PCR-based DNA sequencing.
RESULTS
In our study, the mutation of KAL gene and GnRH receptor gene was not identified in the studied exons that were known as preferable sites of the mutation.
CONCLUSION
The mutation of KAL gene and GnRH receptor gene is rare, and it might be needed to investigate mutations in other genes or in other part of the KAL gene such as intron or promoter region.

MeSH Terms

Brain
DNA
Emigration and Immigration
Exons
Gene Expression
Gonadotropin-Releasing Hormone*
Humans
Hypogonadism
Introns
Kallmann Syndrome*
Neurons
Olfaction Disorders
Population Characteristics
Promoter Regions, Genetic
Receptors, LHRH*
Sequence Analysis, DNA
DNA
Gonadotropin-Releasing Hormone
Receptors, LHRH