title: Molecular analysis of KAL-1 in a series of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism patients from Northwestern China.
abstract: We conducted an analysis of the Kallmann syndrome 1 (KAL-1) genotype in 17 patients with Kallmann syndrome (KS), 9 patients with normosmic idiopathic hypogonadotropic hypogonadism (nIHH) and 20 age-matched normal men in Northwestern China. To do this, we used multiplex PCR analysis with exon-flanking primers and automated sequencing techniques with peripheral blood DNA samples. Intragenic deletions were found at the KAL-1 locus in two KS patients. One case with an atrial septal defect exhibited an intragenic deletion of exon 6. Another KS patient with cryptorchidism had intragenic deletions of exons 5 and 6. For the nIHH patients, no abnormalities were observed in the exonic and flanking sequences of KAL-1. This report describes two intragenic deletions of KAL-1 in two KS patients and suggests that KAL-1 deletion might be more prevalent in KS patients with other congenital organ abnormalities than those described previously in other series from Northwestern China.
authors.affiliation: Department of Urology, The First Affiliated Hospital, School of Medicine, Xi'an Jiaotong University, Xi'an 710061, China.
authors.forename: Kai-Fa
authors.initials: KF
authors.lastname: Tang
authors.forename: Qi-Fei
authors.initials: QF
authors.lastname: Wu
authors.forename: Tie-Jun
authors.initials: TJ
authors.lastname: Zou
authors.forename: Wei
authors.initials: W
authors.lastname: Xue
authors.forename: Xin-Yang
authors.initials: XY
authors.lastname: Wang
authors.forename: Jun-Ping
authors.initials: JP
authors.lastname: Xing
mesh_terms: D000293:Adolescent; D000328:Adult; D002681:China; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D017436:Kallmann Syndrome / Q000235:genetics*; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*
chemical_list: C076266:ANOS1 protein, human; D016326:Extracellular Matrix Proteins; D009419:Nerve Tissue Proteins