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

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

A Novel Nonsense Mutation of theKAL1Gene (Trp204Stop) in Kallmann Syndrome.

2010 ◽  
pp. P1-209-P1-209
Author(s):  
AS El-Husny ◽  
MR Moraes ◽  
AKC Ribeiro-dos-Santos ◽  
MC Fernandes-Caldato
Keyword(s):  
Nonsense Mutation ◽  
Kallmann Syndrome

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 A novel SOX10 nonsense mutation in a patient with Kallmann syndrome and Waardenburg syndrome

2021 ◽  
Vol 2021 ◽  
Author(s):  
Tetsuji Wakabayashi ◽  
Akihito Takei ◽  
Nobukazu Okada ◽  
Miki Shinohara ◽  
Manabu Takahashi ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Neural Crest ◽  
Nonsense Mutation ◽  
Hypogonadotropic Hypogonadism ◽  
Neural Crest Cells ◽  
Kallmann Syndrome ◽  
List Type ◽  
Waardenburg Syndrome ◽  
Common Pathway ◽  
Causative Gene

Summary The underlying genetic drivers of Kallmann syndrome, a rare genetic disorder characterized by anosmia and hypogonadotropic hypogonadism due to impairment in the development of olfactory axons and in the migration of gonadotropin-releasing hormone (GNRH)-producing neurons during embryonic development, remain largely unknown. SOX10, a key transcription factor involved in the development of neural crest cells and established as one of the causative genes of Waardenburg syndrome, has been shown to be a causative gene of Kallmann syndrome. A 17-year-old male patient, who was diagnosed with Waardenburg syndrome on the basis of a hearing impairment and hypopigmented iris at childhood, was referred to our department because of anosmia and delayed puberty. As clinical examination revealed an aplastic olfactory bulb and hypogonadotropic hypogonadism, we diagnosed him as having Kallmann syndrome. Incidentally, we elucidated that he also presented with subclinical hypothyroidism without evidence of autoimmune thyroiditis. Direct sequence analysis detected a nonsense SOX10 mutation (c.373C>T, p.Glu125X) in this patient. Since this nonsense mutation has never been published as a germline variant, the SOX10 substitution is a novel mutation that results in Kallmann syndrome and Waardenburg syndrome. This case substantiates the significance of SOX10 as a genetic cause of Kallmann syndrome and Waardenburg syndrome, which possibly share a common pathway in the development of neural crest cells. Learning points Kallmann syndrome and Waardenburg syndrome possibly share a common pathway during neural crest cell development. SOX10, a key transcription factor involved in the development of neural crest cells, is a common causative gene of Kallmann syndrome and Waardenburg syndrome. Careful evaluation about various phenotypic features may reveal the unknown genetic drivers of Kallmann syndrome.

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