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

2001 ◽  
Vol 48 (2) ◽  
pp. 143-149 ◽  
Author(s):  
YUKIKO IZUMI ◽  
KE-ITA TATSUMI ◽  
SHINGO OKAMOTO ◽  
TORU OGAWA ◽  
AKIKO HOSOKAWA ◽  
...  
Keyword(s):  
Japanese Patients ◽  
Kallmann Syndrome ◽  
Kal1 Gene

Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome

2007 ◽  
Vol 88 (5) ◽  
pp. 1311-1317 ◽  
Author(s):  
Neoklis A. Georgopoulos ◽  
Vasiliki Koika ◽  
Assimina Galli-Tsinopoulou ◽  
Bessie E. Spiliotis ◽  
George Adonakis ◽  
...  
Keyword(s):  
Kallmann Syndrome ◽  
Kal1 Gene ◽  
Gene Defects

Accurate Detection of Intragenic Deletions of KAL1 Gene Using the Multiplex Ligation-Dependent Probe Amplification in Patients with Kallmann Syndrome

2011 ◽  
pp. P1-270-P1-270
Author(s):  
Luciana Ribeiro Montenegro ◽  
Milena Gurgel Teles ◽  
Leticia Gontijo ◽  
Cintia Tusset ◽  
Ana Paula Abreu ◽  
...  
Keyword(s):  
Kallmann Syndrome ◽  
Accurate Detection ◽  
Kal1 Gene ◽  
Intragenic Deletions ◽  
Dependent Probe

scholarly journals Parallel Multi-Gene Panel Testing for Diagnosis of Idiopathic Hypogonadotropic Hypogonadism/Kallmann Syndrome

2019 ◽  
Vol 2019 ◽  
pp. 1-3 ◽  
Author(s):  
Manickavasagam Senthilraja ◽  
Aaron Chapla ◽  
Felix K. Jebasingh ◽  
Dukhabhandhu Naik ◽  
Thomas V. Paul ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Hypogonadotropic Hypogonadism ◽  
Cost Effective ◽  
Kallmann Syndrome ◽  
Causative Gene ◽  
Idiopathic Hypogonadotropic Hypogonadism ◽  
Panel Testing ◽  
Kal1 Gene ◽  
Gene Panel Testing ◽  
The Subject

Kallmann syndrome (KS)/Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by hypogonadotropic hypogonadism and anosmia or hyposmia due to the abnormal migration of olfactory and gonadotropin releasing hormone producing neurons. Multiple genes have been implicated in KS/IHH. Sequential testing of these genes utilising Sanger sequencing is time consuming and not cost effective. The introduction of parallel multigene panel sequencing of small gene panels for the identification of causative gene variants has been shown to be a robust tool in the clinical setting. Utilizing multiplex PCR for the four gene KS/IHH panel followed by NGS, we describe herewith two cases of hypogonadotropic hypogonadism with a Prokineticin receptor 2 (PROKR2) gene and KAL1 gene mutation. The subject with a PROKR2 mutation had a normal perception of smell and normal olfactory bulbs on imaging. The subject with a KAL1 gene mutation had anosmia and a hypoplastic olfactory bulb.

scholarly journals A Novel Mutation of the KAL1 Gene in Kallmann Syndrome.

1999 ◽  
Vol 46 (5) ◽  
pp. 651-658 ◽  
Author(s):  
YUKIKO IZUMI ◽  
KE-ITA TATSUMI ◽  
SHINGO OKAMOTO ◽  
AKIKO HOSOKAWA ◽  
SATOSHI UENO ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Kallmann Syndrome ◽  
Kal1 Gene

A fertile male patient with Kallmann syndrome and two missense mutations in the KAL1 gene

2011 ◽  
Vol 95 (5) ◽  
pp. 1789.e3-1789.e6 ◽  
Author(s):  
Shilin Zhang ◽  
Tao Wang ◽  
Jun Yang ◽  
Zhuo Liu ◽  
Shaogang Wang ◽  
...  
Keyword(s):  
Male Patient ◽  
Kallmann Syndrome ◽  
Missense Mutations ◽  
Kal1 Gene ◽  
Fertile Male

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

2000 ◽  
pp. 783-787 ◽  
Author(s):  
T Matsuo ◽  
S Okamoto ◽  
Y Izumi ◽  
A Hosokawa ◽  
T Takegawa ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Direct Sequencing ◽  
Hypogonadotropic Hypogonadism ◽  
Monozygotic Twins ◽  
Kallmann Syndrome ◽  
Gene Design ◽  
Kal1 Gene ◽  
Sequencing Method ◽  
Exon 9 ◽  
Lh Rh

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.

Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism

2017 ◽  
Vol 30 (10) ◽  
Author(s):  
Kohei Aoyama ◽  
Haruo Mizuno ◽  
Tatsushi Tanaka ◽  
Takao Togawa ◽  
Yutaka Negishi ◽  
...  
Keyword(s):  
Sanger Sequencing ◽  
Hypogonadotropic Hypogonadism ◽  
Molecular Genetic ◽  
Japanese Patients ◽  
Kallmann Syndrome ◽  
Next Generation ◽  
Genetic Causes ◽  
Congenital Hypogonadotropic Hypogonadism ◽  
Pathogenic Mutations

AbstractBackground:Congenital hypogonadotropic hypogonadism (CHH) is classified as Kallmann syndrome (KS) with anosmia/hyposmia or normosmic (n)CHH. Here, we investigated the genetic causes and phenotype-genotype correlations in Japanese patients with CHH.Methods:We enrolled 22 Japanese patients with CHH from 21 families (18 patients with KS and 4 with nCHH) and analyzed 27 genes implicated in CHH by next-generation and Sanger sequencing.Results:We detected 12 potentially pathogenic mutations in 11 families, with three having a mutation inConclusions:The frequency of CHH genes in the Japanese was compatible with previous reports, except that

scholarly journals A novel nonsense mutation of the KAL1 gene (p.Trp204*) in Kallmann syndrome

2014 ◽  
pp. 177
Author(s):  
Andrea Ribeiro-dos-Santos ◽  
Antonette Souto El Husny ◽  
Milene Raiol-de-Moraes ◽  
Milena Fernandes-Caldato
Keyword(s):  
Nonsense Mutation ◽  
Kallmann Syndrome ◽  
Kal1 Gene
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