Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A rare variant of necdin (p.V318A) was described in a family with Kallmann syndrome associated with a FGFR1 mutation.
|
21543378 |
2011 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The study characterised the dental ageneses of individuals with KS associated with mutations in the FGFR1 gene.
|
20536592 |
2010 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Genotype-phenotype correlations have shown that some clinical features associated with KS, such as loss of nasal cartilage, hearing impairment, and anomalies of the limbs seem to be mainly associated with KAL2 mutations.
|
20389085 |
2010 |
Kallmann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Therefore, this is the first case of KS carrying a de novo missense mutation in FGFR1 exon 8A, suggesting that isoform FGFR1-IIIb, as well as isoform FGFR1-IIIc, plays a crucial role in the pathogenesis of KS.
|
20139426 |
2010 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in the KS gene KAL-2/FGFR1 account for roughly 10% of KS cases, leading to the autosomal dominant form of the disease.
|
20117945 |
2010 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
FGFR1 mutations have been identified in about 10% of patients with Kallmann syndrome.
|
19820032 |
2009 |
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 |
KAL2, identified as the fibroblast growth factor receptor 1 (FGFR1) gene, has now been recognised to be the underlying genetic defect for an autosomal dominant form of KS.
|
18034870 |
2008 |
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 |
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 |
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 |
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 |
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 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
FGFR1 and anosmin-1 underlying genetically distinct forms of Kallmann syndrome are co-expressed and interact in olfactory bulbs.
|
17186267 |
2007 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
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 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Considering the low prevalence of mutations in KAL1 or FGFR1 in KS, it is possible that these genotypes are more prevalent in reversible KS than in other KS patients, but additional studies are necessary to confirm this hypothesis.
|
17322486 |
2007 |
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 |
One hundred and fifty probands with KS (130 males and 20 females) were studied to determine the frequency and distribution of FGFR1 mutations and their detailed reproductive phenotypes.
|
16764984 |
2006 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous FGFR1 mutations were found in three of seven unrelated nIHH probands with normal MRI of the olfactory system: (i) G237S in an nIHH female and a KS brother; (ii) (P722H and N724K) in an nIHH male missing two teeth and his mother with isolated hyposmia; and (iii) Q680X in a nIHH male with cleft lip/palate and missing teeth, his brother with nIHH, and his father with delayed puberty.
|
16606836 |
2006 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
One hundred and fifty probands with KS (130 males and 20 females) were studied to determine the frequency and distribution of FGFR1 mutations and their detailed reproductive phenotypes.
|
16764984 |
2006 |
Kallmann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Direct sequencing was performed for FGFR1, and clinical assessment was carried out for KS features.
|
15845591 |
2005 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To date, the detailed reproductive phenotype of KS associated with mutations in the FGFR1 has yet to be described.
|
15613419 |
2005 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
IHH associated with impaired olfactory function (Kallmann syndrome) may be caused by mutations of the X-chromosomal KAL1 (encoding anosmin) or the fibroblast growth factor receptor 1 genes (FGFR1), both leading to agenesis of olfactory and GnRH-secreting neurons.
|
15722618 |
2005 |
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 |