|
rs786201856
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Apart from the two previously reported mutation hotspots c.3927_3931delAAAGA (20.47%) and c.3183_3187delACAAA (7.09%), c.847C>T/p.Arg283Ter variant occurred with a frequency of 3.15% (4 out of 127) in Chinese FAP patients.
|
26625971 |
2016 |
|
rs786201856
|
|
|
0.730 |
GeneticVariation |
BEFREE |
An Arg283Stop mutation in exon 8 was found in 5 members in another family; 4 of them had FAP and all had small hypopigmented white lesions, probably a new type of CHRPE.
|
10755094 |
2000 |
|
rs786201856
|
|
|
0.730 |
GeneticVariation |
BEFREE |
We conclude that an Arg283Ter mutation in the APC gene is causative of the FAP phenotype in this family, although there is considerable variation in the presentation of this disease among affected individuals.
|
12901799 |
2003 |
|
rs137854580
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Sequence analysis revealed that a patient with a high level of ASE who did not have a family history of CRC carried a nonsense mutation in APC (p.Arg216X).
|
21995949 |
2012 |
|
rs137854580
|
|
|
0.720 |
GeneticVariation |
BEFREE |
A mutation in exon 6, Arg216Stop, was identified in one patient with FAP and CHRPE.
|
10755094 |
2000 |
|
rs62619935
|
|
|
0.720 |
GeneticVariation |
BEFREE |
A mutation in exon 6, Arg216Stop, was identified in one patient with FAP and CHRPE.
|
10755094 |
2000 |
|
rs62619935
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Sequence analysis revealed that a patient with a high level of ASE who did not have a family history of CRC carried a nonsense mutation in APC (p.Arg216X).
|
21995949 |
2012 |
|
rs72541816
|
|
|
0.720 |
GeneticVariation |
BEFREE |
One previously described as a causative germline mutation (S2621C), associated with a 1-bp insertion (4684insA) on the opposite allele, did not segregate with the FAP phenotype in the family and was therefore considered as being non-pathogenic.
|
9341879 |
1997 |
|
rs72541816
|
|
|
0.720 |
GeneticVariation |
BEFREE |
However, special attention must be given to the missense mutations Asp1822Val and Ser2621Cys since their segregation with the FAP phenotype is questionable.
|
11668620 |
2001 |
|
rs121913224
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Genetic testing using massively parallel sequencing identified a 5-bp deletion (c.3927_3931delAAAGA) which causes frameshift (p.Glu1309Aspfs) and creates a premature stop codon, resulting in the replacement of the last 1535 amino acids of APC by five incorrect amino acids.
|
30340471 |
2018 |
|
rs137854575
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We identified a mutation in the APC gene that results in a truncated protein (Y935X) in the FAP proband, and subsequently in 12 FAP-affected members.
|
16292097 |
2005 |
|
rs397515734
|
|
|
0.710 |
GeneticVariation |
BEFREE |
In them, 2 rare variants (c.694C>T in APC and c.1690A>G in MSH2) might be the putative causal mutations for familial adenomatous polyposis (FAP) since the rarity of the mutated allele in normal controls. c.694C>T was detected in only affected members and generated a premature stop codon in APC.
|
24735542 |
2014 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Familial amyloidosis or familial amyloid polyneuropathy (FAP) TTR V30M is a hereditary disease presented, in most cases, as a sensorimotor and autonomic neuropathy.
|
18925459 |
2008 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The first identified cause of FAP-the TTR Val30Met mutation-is still the most common of more than 100 amyloidogenic point mutations identified worldwide.
|
22094129 |
2011 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In the Non-Val30Met group no differences were found between DR and FAP patients pre-LT. TTR-amyloidosis symptoms showed no differences in FAP patients pre- and 5 years post-LT, irrespective of Val30Met status.
|
30091268 |
2018 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
FNEs occurred also in V30M FAP patients with longer disease duration, who have undergone liver transplant to remove the source of plasma mutant TTR as a form of treatment.
|
27884058 |
2016 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This family shows a direct link between a valine-to-leucine substitution at position 30 and type 1 FAP.
|
9843084 |
1998 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Familial amyloid polyneuropathy (FAP) ATTRV30M is a neurodegenerative disorder due to point mutations in the transthyretin gene, with V30M being the commonest.
|
26286643 |
2016 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Among patients with familial amyloid polyneuropathy (FAP), those with transthyretin Val30Met mainly show distally predominant weakness and atrophy, whereas some FAP patients, including those with transthyretin Ser50Ile and Tyr114Cys, show muscle weakness and atrophy that is dominant proximally, simulating myopathy.
|
15536615 |
2005 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Cardiac sympathetic denervation detected by iodine-123 labeled metaiodobenzylguanidine (MIBG) is an important prognostic marker in TTR-V30M FAP.
|
28479268 |
2017 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
However, research is scarce in examining the roles that older generations play in terms of health promotion and risk management towards younger generations, which is particularly evident with incurable genetically inherited disorders such as familial amyloid polyneuropathy (FAP) ATTR Val30Met.
|
28327574 |
2017 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Sural nerve biopsy specimens from 49 patients with familial amyloid polyneuropathy (FAP) with transthyretin Val30Met mutation were assessed.
|
27794111 |
2016 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This study addresses the objective knowledge about the disease of subjects at risk for 3 genetic late-onset neurological diseases (LOND): familial amyloid polyneuropathy (FAP) TTR V30M, Huntington disease (HD), and Machado-Joseph disease (MJD).
|
28813711 |
2017 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
It is also noteworthy that serious cardiac amyloidosis is commonly seen in patients with FAP of the non-Val30Met TTR type.
|
11940682 |
2002 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
As found in a study in Cyprus, we confirmed the role of complement <i>C1Q</i> genes (and thus of inflammation) as modulator of AO in Portuguese patients with TTR-FAP Val30Met.
|
31019999 |
2019 |