Polymorphic changes in the KAL1 gene: Not all of them should be classified as polymorphisms

2004 ◽  
Vol 27 (8) ◽  
pp. 765-769 ◽  
Author(s):  
D. Söderlund ◽  
F. Vilchis ◽  
J. P. Méndez
Keyword(s):  
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

scholarly journals Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene

2014 ◽  
Vol 56 (2) ◽  
pp. 177-184 ◽  
Author(s):  
Anna Sowińska-Seidler ◽  
Monika Piwecka ◽  
Ewelina Olech ◽  
Magdalena Socha ◽  
Anna Latos-Bieleńska ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Male Patient ◽  
Mild Intellectual Disability ◽  
Kal1 Gene

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.

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

scholarly journals Exploring the Genetic Diversity of Isolated Hypogonadotropic Hypogonadism and Its Phenotypic Spectrum: A Case Series

2020 ◽  
Author(s):  
Vijay Sheker Reddy Danda ◽  
Srinivas Rao Paidipelly ◽  
Madhavi Verepula ◽  
Piyush Lodha ◽  
Krishna Reddy Thaduri ◽  
...  
Keyword(s):  
Hypogonadotropic Hypogonadism ◽  
Relative Proportion ◽  
Case Series ◽  
Genetic Mutations ◽  
Unilateral Renal Agenesis ◽  
Kal1 Gene ◽  
Genetic Features ◽  
Targeted Gene Sequencing ◽  
Generation Sequencing ◽  
Chd7 Mutation

Background: Isolated hypogonadotropic hypogonadism (IHH) is a rare disorder being classified as Kallmann syndrome (KS). The present study was conducted to study the genotype and relative proportion of different genetic mutations in IHH and to assess its correlation with phenotype. Methods: Eleven consecutive subjects presenting to the Department of Endocrinology were retrospectively analyzed during May 2017 to December 2018 with IHH. Phenotypic features and hormonal studies were analyzed along with clinical exome by targeted gene sequencing (Next generation sequencing). Thirty-nine relevant genes were tested in the analysis. Results: Of the 11 patients studied, five had KS and six had nIHH. At diagnosis, mean chronological age was 25 years. There were associated anomalies in KS group including bimanual synkinesia (n=2), unilateral renal agenesis (n=1) and submucosal cleft palate (n=1). Absence or hypoplasia of the olfactory bulb/sulci was found in 4/5 patients with KS. Genetic mutations in KAL1, CHD7, FGFR1, GNRHR, PROKR2, HS6ST1 genes were found in nine of the eleven subjects. Of the five subjects with KS, two had mutations in KAL1 gene. Two siblings who had bimanual synkinesia had CHD7 mutation. The genotype of nIHH subjects (n=6) was more heterogeneous. Conclusion: This study analyzed the clinical, endocrinological, and genetic features in IHH patients. Detectable genetic mutations were seen in a large proportion of cases. A considerable heterogeneity was seen in the genotype with new variants detected. A definite correlation of phenotype-genotype was not possible, and significant overlap was seen between CHD7 and KAl1, and FGFR1 phenotypes.

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