A Novel Mutation of the KAL1 Gene in Kallmann Syndrome.

Izumi, Yukiko; Tatsumi, Koichi; Okamoto, Shingo; Hosokawa, Akiko; Ueno, S.; Fukui, Hiroshi; Amino, Nobuyuki

doi:10.1507/endocrj.46.651

Cited by 12 publications

(14 citation statements)

References 23 publications

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“…Thus far, 35 families with mutations in the KALI gene responsible for Kallmann syndrome have been reported in Xlinked families and sporadic cases [9][10][11][12][13][14][15][16][17][18][19][20].…”

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confidence: 99%

“…We first analyzed the KALI gene (Genbank accession number M97252) [6] in Kallmann syndrome patients in Japan and reported 2 mutations in the KALI gene in a sporadic case [19] and monozygotic twin cases [20]. To further clarify the characteristics of Japanese patients, we analyzed the KALI gene in 16 Japanese patients with Kallmann syndrome.…”

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confidence: 99%

“…Combined with the 3 previously reported patients, we examined mutations and polymorphisms in the KALI 1-3), the KALI genes were previously analyzed and reported [19,20]. All patients were Japanese.…”

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confidence: 99%

“…All 14 exons of the KALI gene were amplified by PCR as previously reported [19] using primers described by Hardelin et al [12]. The PCR-amplified fragments were purified and submitted to sequencing reaction using ABI PRISM Dye Terminator Cycle Sequencing Ready Reaction kit with AmpliTaq DNA polymerase, FS (Perkin-Elmer, Applied Biosystems Division, Foster City, CA).…”

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Analysis of the KAL1 Gene in 19 Japanese Patients with Kallmann Syndrome.

et al. 2001

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Abstract.Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. The KALI gene is responsible for the X-linked form of Kallmann syndrome. We analyzed the KALI gene in 19 Japanese patients with Kallmann syndrome, including 3 patients reported previously, using PCR-direct sequencing method. All of 19 patients were sporadic, except for 2 monozygotic twins. In this study, there were 3 kinds of mutations in the KAL1 gene. One of them was a novel mutation consisting of a G to A substitution in the acceptor site at the junction of intron 6/exon 7. None of the mutations have been reported in countries other than Japan. In male sporadic patients with Kallmann syndrome, the incidence of mutations in Japanese patients (14%: 2 of 14 cases) was slightly higher than that in patients in USA (8%). Also, we found 2 polymorphisms, which were always found together in 6 patients.The severity of hypogonadism was not related to the presence of mutations. Unilateral renal aplasia and mirror movement, which are frequently found in patients with the KALI gene mutation, were not related to the sites of mutations.

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Analysis of the KAL1 Gene in 19 Japanese Patients with Kallmann Syndrome.

et al. 2001

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“…Because all mutations we have found occurred in either probands or the mother (16), and only one large pedigree with the KAL1 gene mutation has been reported (12), we suggest that mutation in the KAL1 gene may only rarely be inherited because of the associated male infertility.…”

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A novel mutation of the KAL1 gene in monozygotic twins with Kallmann syndrome

Matsuo

Okamoto²,

Izumi

et al. 2000

European Journal of Endocrinology

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Objective: Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. The KAL1 gene is responsible for the X-linked form of Kallmann syndrome. In this study we describe monozygotic twins with Kallmann syndrome due to the same mutation in the KAL1 gene. Design: We studied male monozygotic twins with Kallmann syndrome. Methods: We analyzed the KAL1 gene using the PCR-direct sequencing method. The twins' mother was examined for the identified mutation. Results: We identified a 14 bp deletion from codon 419 in exon 9 (Pro419del14) in both KAL1 genes of the twins. This was a novel mutation in the KAL1 gene and was responsible for Kallmann syndrome. As Pro419del14 was not detected in the mother of the twins, Pro419del14 was a germline mutation originating from them. These monozygotic twins showed different LH and FSH responses to LH±RH stimulation and different phenotypes such as complications, physiques and psychiatric characters. Conclusions: We report an identical KAL1 gene mutation in the monozygotic twins with Kallmann syndrome. As these monozygotic twins showed different phenotypes in some respects, we suggest that factors other than mutations in the KAL1gene affect the symptomatic features of Kallmann syndrome.

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