|
rs267607165
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A heterozygous de novo c.1228G>A mutation (E410K) in the TUBB3 gene encoding the neuronal-specific β-tubulin isotype 3 (TUBB3) causes the TUBB3 E410K syndrome characterized by congenital fibrosis of the extraocular muscles (CFEOM), facial weakness, intellectual and social disabilities, and Kallmann syndrome (anosmia with hypogonadotropic hypogonadism).
|
25559402 |
2015 |
|
rs267607165
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Moreover, the c.1228G>A mutation was absent in DNA from ∼600 individuals who had either Kallmann syndrome or isolated or syndromic ocular and/or facial dysmotility disorders, but who did not have the combined features of the TUBB3 E410K syndrome, highlighting the specificity of this phenotype-genotype correlation.
|
23378218 |
2013 |
|
rs199979628
|
|
|
0.010 |
GeneticVariation |
BEFREE |
By analyzing protein expression and processing, we did not observe any differences of the p.I668V variant compared with wild-type SEMA3A, while a pathogenic SEMA3A variant p.R66W recently described in a patient with Kallmann syndrome did affect protein secretion.
|
29432577 |
2018 |
|
rs202203360
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Kallmann syndrome with a Tyr113His PROKR2 mutation.
|
28858133 |
2017 |
|
rs1269636220
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel heterozygous missense mutations in FGFR1, (NM_001174066): c.776G>A (p.G259E) and (NM_001174066): c.358C>T (p.R120C), were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively.
|
26199944 |
2015 |
|
rs1306416169
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel heterozygous missense mutations in FGFR1, (NM_001174066): c.776G>A (p.G259E) and (NM_001174066): c.358C>T (p.R120C), were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively.
|
26199944 |
2015 |
|
rs1487309678
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel heterozygous missense mutations in FGFR1, (NM_001174066): c.776G>A (p.G259E) and (NM_001174066): c.358C>T (p.R120C), were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively.
|
26199944 |
2015 |
|
rs397515445
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel heterozygous missense mutations in FGFR1, (NM_001174066): c.776G>A (p.G259E) and (NM_001174066): c.358C>T (p.R120C), were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively.
|
26199944 |
2015 |
|
rs572007403
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One novel heterozygous missense mutation in KISS1R, (NM_032551): c.587C>A (p.P196H), was identified in an 18-year-old KS male with cleft lip and dental agenesis who developed sperm after being treated with gonadotropin.
|
26199944 |
2015 |
|
rs137852515
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The introduction in anosmin-1 of the missense mutation F517L found in patients suffering from KS annulled the chemotactic activity; however, the mutant form carrying the disease-causing mutation E514K also found in KS patients, behaved as the wild-type protein.
|
24375670 |
2014 |
|
rs137852660
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Whereas the duplication mutation has not been reported before, p.Pro26Leu was once observed in a Kallmann syndrome patient.
|
25131394 |
2014 |
|
rs141929169
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three missense AXL mutations (p.L50F, p.S202C, and p.Q361P) and one intronic variant 6 bp upstream from the start of exon 5 (c.586-6 C>T) were identified in two KS and 2 two nIHH subjects.
|
24476074 |
2014 |
|
rs199573818
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The introduction in anosmin-1 of the missense mutation F517L found in patients suffering from KS annulled the chemotactic activity; however, the mutant form carrying the disease-causing mutation E514K also found in KS patients, behaved as the wild-type protein.
|
24375670 |
2014 |
|
rs1218450484
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel heterozygous missense mutations (p.H42Y and p.V75L) and previously reported heterozygous missense mutation p.Q6H in HESX1 were identified in 3 of 217 patients (1.4%).All were males with KS.
|
23465708 |
2013 |
|
rs121909173
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel heterozygous missense mutations (p.H42Y and p.V75L) and previously reported heterozygous missense mutation p.Q6H in HESX1 were identified in 3 of 217 patients (1.4%).All were males with KS.
|
23465708 |
2013 |
|
rs2229013
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A missense mutation of KAL1, c.1828G>A, led to pVal610Ile substitution in two brothers with KS; their mother is heterozygous for this missense mutation encoded by single-nucleotide polymorphism rs2229013.
|
23410897 |
2013 |
|
rs369831329
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recently, the homozygous mutation V274D was identified in a man displaying KS with an apparent reversal of hypogonadism.
|
23969157 |
2013 |
|
rs761470587
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel heterozygous missense mutations (p.H42Y and p.V75L) and previously reported heterozygous missense mutation p.Q6H in HESX1 were identified in 3 of 217 patients (1.4%).All were males with KS.
|
23465708 |
2013 |
|
rs1126485
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A rare variant of necdin (p.V318A) was described in a family with Kallmann syndrome associated with a FGFR1 mutation.
|
21543378 |
2011 |
|
rs114077338
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A rare variant of necdin (p.V318A) was described in a family with Kallmann syndrome associated with a FGFR1 mutation.
|
21543378 |
2011 |
|
rs753838219
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We performed mutation analysis of FGFR1 in a 23-year-old female patient with KS and found a missense mutation (c.1072C>T) in exon 8A of FGFR1.
|
20139426 |
2010 |
|
rs759233744
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We performed mutation analysis of FGFR1 in a 23-year-old female patient with KS and found a missense mutation (c.1072C>T) in exon 8A of FGFR1.
|
20139426 |
2010 |
|
rs138672528
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among them, six had KS, four nIHH, and one KS proband carried both a PROKR2 (p.V115M) and PROK2 (p.A24P) mutation.
|
18559922 |
2008 |
|
rs1424371425
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequencing of FGFR1 gene, recently implicated in autosomal form of KS, was performed and one splicing mutation (IVS14 + 1G > A) was identified in one patient.
|
17530415 |
2008 |
|
rs374447937
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among them, six had KS, four nIHH, and one KS proband carried both a PROKR2 (p.V115M) and PROK2 (p.A24P) mutation.
|
18559922 |
2008 |