Idiopathic hypogonadotropic hypogonadism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Six novel mutations (p.154_158del, p.E496Rfs*12, p.W190X, p.S134D, p.W10X, and c.1552 + 3insT) in FGFR1, two novel mutations (p.E176K and p.R184C) in FGF8, three novel mutations (p.48_52del, p.P120L, and p.K191R) in FGF17, and five reported mutations (p.W289X, p.G237S, p.V102I, p.R250Q, and p.T340M) in FGFR1 were identified in 18 IHH patients.
|
31748124 |
2020 |
Idiopathic hypogonadotropic hypogonadism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our approach "re-discovered" genes previously implicated in IHH (FGFR1, TACR3, GNRHR).
|
30269813 |
2018 |
Idiopathic hypogonadotropic hypogonadism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Ours is the first report of normosmic IHH associated with a mutation in the alternatively spliced exon 8A and suggests that this disorder can be caused by defects in either of the two alternatively spliced FGFR1 isoforms.
|
26277103 |
2015 |
Idiopathic hypogonadotropic hypogonadism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here, we report an nIHH patient with a novel mutation in FGFR1.
|
25501157 |
2014 |
Idiopathic hypogonadotropic hypogonadism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Six of the twelve subjects had an identified genetic cause of their IHH: KAL1 (n = 1), FGFR1 (n = 3), PROKR2 (n = 1), GNRHR (n = 1).
|
25226293 |
2014 |
Idiopathic hypogonadotropic hypogonadism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Although mutations in the fibroblast growth factor receptor 1 (FGFR1) gene have been implicated in the development of IHH, KS, and SOD, the relevance of FGFR1 abnormalities to CPHD remains to be elucidated.
|
23657145 |
2013 |
Idiopathic hypogonadotropic hypogonadism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Comparative functional analysis of two fibroblast growth factor receptor 1 (FGFR1) mutations affecting the same residue (R254W and R254Q) in isolated hypogonadotropic hypogonadism (IHH).
|
23276709 |
2013 |
Idiopathic hypogonadotropic hypogonadism
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys.
|
24204987 |
2013 |
Idiopathic hypogonadotropic hypogonadism
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
|
23812909 |
2013 |
Idiopathic hypogonadotropic hypogonadism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
FGFR1 mutations cause isolated hypogonadotropic hypogonadism (IHH) with or without olfactory abnormalities, Kallmann syndrome, and normosmic IHH respectively.
|
20463092 |
2010 |
Idiopathic hypogonadotropic hypogonadism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These results support the hypothesis that IHH/KS patients with digenic mutations in Fgfr1/Fgf8 may have a further reduction in the GnRH neuronal population compared to patients harbouring monogenic haploid mutations in Fgfr1 or Fgf8.
|
20553372 |
2010 |
Idiopathic hypogonadotropic hypogonadism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To describe a mother with idiopathic hypogonadotropic hypogonadism (IHH) and her monozygotic (MZ) twin boys who all have the same heterozygous fibroblast growth factor receptor-1 (FGFR1) gene mutation.
|
20079901 |
2010 |
Idiopathic hypogonadotropic hypogonadism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Certain genes, including PROK2 and FGFR1, are associated with both anosmic and normosmic IHH.
|
19707180 |
2009 |
Idiopathic hypogonadotropic hypogonadism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Nine nIHH subjects (five males and four females; 7%) harbor a heterozygous mutation in FGFR1 and exhibit a wide spectrum of pubertal development, ranging from absent puberty to reversal of IHH in both sexes.All mutations impair receptor function.
|
19820032 |
2009 |
Idiopathic hypogonadotropic hypogonadism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Most causative genes cause either normosmic IHH or KS except FGFR1, which may cause either phenotype.
|
18253056 |
2008 |
Idiopathic hypogonadotropic hypogonadism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in three genes--KAL1, GNRHR and FGFR1--account for 15-20% of all causes of IHH/KS.
|
18463157 |
2008 |
Idiopathic hypogonadotropic hypogonadism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
KS is a genetically heterogeneous disorder consisting of idiopathic hypogonadotropic hypogonadism (IHH) and anosmia, and is most commonly due to KAL1 or FGFR1 mutations.
|
18834967 |
2008 |
Idiopathic hypogonadotropic hypogonadism
|
0.500 |
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 |
Idiopathic hypogonadotropic hypogonadism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to determine whether FGFR1 mutations were present in a unique family with autosomal dominant, fully penetrant, normosmic IHH.
|
17200176 |
2007 |
Idiopathic hypogonadotropic hypogonadism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In addition, we found an even wider spectrum of reproductive function within pedigrees carrying an FGFR1 mutation ranging from IHH to delayed puberty to normal reproductive function (anosmia only or asymptomatic carriers).
|
16764984 |
2006 |
Idiopathic hypogonadotropic hypogonadism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
|
16606836 |
2006 |
Idiopathic hypogonadotropic hypogonadism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The objective was to investigate genetic defects in the KAL1 and FGFR1 genes in patients with congenital isolated hypogonadotropic hypogonadism (IHH).
|
16882753 |
2006 |
Idiopathic hypogonadotropic hypogonadism
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|