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

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.

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 CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration

Endocrinology ◽  
2016 ◽  
Vol 157 (5) ◽  
pp. 1956-1966 ◽  
Author(s):  
B. Ian Hutchins ◽  
L. Damla Kotan ◽  
Carol Taylor-Burds ◽  
Yusuf Ozkan ◽  
Paul J. Cheng ◽  
...  
Keyword(s):  
Neuronal Migration ◽  
Novel Mutation ◽  
Hypogonadotropic Hypogonadism ◽  
Coiled Coil ◽  
Reproductive Function ◽  
Kallmann Syndrome ◽  
System A ◽  
Neuronal Migration Disorder ◽  
Gnrh Neurons ◽  
Migration Disorder

Abstract The first mutation in a gene associated with a neuronal migration disorder was identified in patients with Kallmann Syndrome, characterized by hypogonadotropic hypogonadism and anosmia. This pathophysiological association results from a defect in the development of the GnRH and the olfactory system. A recent genetic screening of Kallmann Syndrome patients revealed a novel mutation in CCDC141. Little is known about CCDC141, which encodes a coiled-coil domain containing protein. Here, we show that Ccdc141 is expressed in GnRH neurons and olfactory fibers and that knockdown of Ccdc141 reduces GnRH neuronal migration. Our findings in human patients and mouse models predict that CCDC141 takes part in embryonic migration of GnRH neurons enabling them to form a hypothalamic neuronal network to initiate pulsatile GnRH secretion and reproductive function.

scholarly journals Identification of a novel mutation in FGFR1 gene in patients with Kallmann syndrome by high throughput sequencing

2018 ◽  
Vol 64 (3) ◽  
pp. 202-206 ◽  
Author(s):  
Bao-Fang Jin ◽  
Zhi-Yong Ji ◽  
Zhi-Ying Su ◽  
Li-Bin Mei ◽  
Xian-Jing Huang ◽  
...  
Keyword(s):  
High Throughput ◽  
High Throughput Sequencing ◽  
Novel Mutation ◽  
Kallmann Syndrome ◽  
Fgfr1 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.

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 Coexistence of Kallmann syndrome and complete androgen insensitivity in the same patient

2005 ◽  
Vol 152 (6) ◽  
pp. 813-817 ◽  
Author(s):  
Marie-Hélène Gannagé-Yared ◽  
Catherine Dodé ◽  
Ismat Ghanem ◽  
Eliane Chouery ◽  
Nadine Jalkh ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Present Report ◽  
Receptor Gene ◽  
Hypogonadotropic Hypogonadism ◽  
Phenotypic Expression ◽  
Androgen Receptor Gene ◽  
Kallmann Syndrome ◽  
Normal Female ◽  
Aberrant Splicing ◽  
Androgen Insensitivity

Kallmann syndrome (KS) is a developmental disease that combines hypogonadotropic hypogonadism and anosmia/hyposmia. Other congenital abnormalities may also coexist. This present report describes two sisters, aged 13 and 12 years, born from Lebanese consanguineous parents. The two sisters have complete androgen insensitivity (normal female appearance and an XY karyotype) due to a novel mutation, a C-to-G transversion in intron 2 of the androgen receptor gene, resulting in an aberrant splicing leading to an insertion of 66 nucleotides in the mRNA. In addition, the older sister has KS, together with synkinesia and multiple skeletal abnormalities, mainly kyphosis, vertebral abnormalities, and short right hand and feet. Her testosterone, FSH and LH levels were very low compared with her younger sister. No mutation in the KAL1 and FGFR1/KAL2 genes were found. This unique report raises the possibility of an autosomal recessive or X-linked form of KS with new phenotypic expression.

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
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