Cytogenetic analysis and detection of KAL-1 gene deletion with fluorescence in situ hybridization (FISH) in patients with Kallmann syndrome

Abstract

Kallmann syndrome (KS) is a disease clinically characterized by the association of hypogonadotropic hypogonadism and anosmia or hyposmia, for which three modes of transmission have been described: X-linked, autosomal recessive and autosomal dominant. The KAL-1 gene, responsible for the X-linked form of the disease, has been isolated and its intron-exon organization determined. In this study, two families with X-linked KS and four sporadic male patients with hypogonadotropic hypogonadism and anosmia were cytogenetically investigated with high-resolution techniques and FISH. Chromosomal analysis did not reveal any rearrangements or deletions. Deletion of the KAL-1 gene was detected by FISH in only one sporadic patient, with the typical features of KS and a high palate. Among the familial cases renal abnormalities and pes cavus deformity were observed.