Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Here, we demonstrate skeletal phenotypic characterization of patients presented with KS and FGFR1 mutations.
|
23154428 |
2012 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Diverse mutations in PROKR2, a gene involved both in monogenic recessive and digenic/oligogenic KS transmission modes, were found in 23.3% of the Maghrebian patients, but only in 5.1% of the European patients (Fisher's exact test, P<0.001), whereas mutations in each of the other four KS genes were present either at similar frequencies in the Maghrebian and European patients (KAL1, PROK2, FGF8, from 6.6 to 0.8%; Fisher's exact test, P>0.4 for all comparisons) or at a lower frequency in Maghrebian patients (FGFR1, 5.0 vs 11.7%; Fisher's exact test, P<0.05).
|
24031091 |
2013 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).
|
16757108 |
2006 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Although Kallmann syndrome (KS) caused by heterozygous loss of function mutations of the fibroblast growth factor receptor 1 gene (FGFR1) is occasionally associated with characteristic features, such as dental agenesis and cleft palate, FGFR1 mutations remain unidentified in several KS patients with such characteristic features.
|
16418210 |
2006 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This low prevalence of KAL1 mutations indicates that other genes, such as the fibroblast growth factor receptor 1 (FGFR1) gene or other as yet undiscovered genes, epigenetic events and/or environmental factors might be involved in the aetiology and phenotypic variability of KS.
|
17223984 |
2007 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
New intronic Fibroblast Growth Factor Receptor 1 (FGFR1) mutation leading to disrupted splicing and Kallmann syndrome.
|
29228280 |
2018 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A heterozygous mutation at codon 102 of the FGFR1 gene was found in the patient, but the father was found to have the same mutation yet is unaffected by Kallmann syndrome.
|
31741254 |
2019 |
Kallmann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
The protein anosmin-1, coded by the KAL1 gene responsible for the X-linked form of Kallmann syndrome (KS), exerts its biological effects mainly through the interaction with and signal modulation of fibroblast growth factor receptor 1 (FGFR1).
|
23189990 |
2013 |
Kallmann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
The identified deletion included ANK1, but not FGFR1, which is consistent with the absence of any phenotype or laboratory findings of Kallmann syndrome.
|
22771917 |
2012 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
|
12627230 |
2003 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These findings further emphasize the great variability of FGFR1 mutation phenotypes in IHH/KS.
|
28008864 |
2017 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.
|
26277103 |
2015 |
Kallmann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
In Kallmann syndrome (KS), according to the presence of certain accompanying clinical features, genetic screening for particular gene(s) may be prioritized: synkinesia (KAL1), dental agenesis (FGF8/FGFR1), bony anomalies (FGF8/FGFR1), and hearing loss (CHD7, SOX10).
|
26680571 |
2016 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Currently, the fibroblast growth factor receptor 1 (FGFR1) gene is the only known autosomal dominant cause of KS, which is also associated with synkinesia, midfacial defects, and dental agenesis.
|
17200176 |
2007 |
Kallmann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Indeed, FGF8 and FGFR1 deficiency severely compromises vertebrate reproduction in mice and humans and is associated with Kallmann Syndrome (KS), a congenital disease characterized by hypogonadotropic hypogonadism associated with anosmia.
|
31361780 |
2019 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
|
12627230 |
2003 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
NGS with confirmation by Sanger sequencing resulted in the identification of new causative FGFR1 gene mutations and suggested 18 new candidate genes in nHH/KS.
|
27502037 |
2016 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.
|
15001591 |
2004 |
Kallmann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Mutations in three genes--KAL1, GNRHR and FGFR1--account for 15-20% of all causes of IHH/KS.
|
18463157 |
2008 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis.
|
17154279 |
2007 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We report a female with combined pituitary hormone deficiencies (GH, TSH, gonadotropin and ACTH), except for prolactin, as a consequence of PROP1 mutation, and a male with KS (anosmia and IHH) due to Kal 2 gene (fibroblast growth factor receptor 1- FGFR1) mutation, both of whom in adulthood presented with prolactinomas.
|
22801565 |
2013 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Two KS-related loci are currently known: KAL1, encoding anosmin-1, responsible for X-linked KS, and KAL2, encoding the fibroblast growth factor receptor 1 (FGFR1), mutated in autosomal dominant KS.
|
17191030 |
2007 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
FGFR1 mutations have been identified in both Kallmann syndrome and normosmic HH (nIHH).
|
23276709 |
2013 |
Kallmann Syndrome
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
A total of 103 patients with either CPHD (n = 35) or SOD (n = 68) were investigated for mutations in genes implicated in the etiology of KS (FGFR1, FGF8, PROKR2, PROK2, and KAL1).
|
22319038 |
2012 |
Kallmann Syndrome
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
To address this issue, we studied 2 families, one with Kallmann syndrome (IHH and anosmia) and another with normosmic IHH, in which a single-gene defect had been identified: a heterozygous FGF receptor 1 (FGFR1) mutation in pedigree 1 and a compound heterozygous gonadotropin-releasing hormone receptor (GNRHR) mutation in pedigree 2, both of which varied markedly in expressivity within and across families.
|
17235395 |
2007 |