-
Je něco špatně v tomto záznamu ?
Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families
P. Liskova, GK. Klintworth, BL. Bowling, M. Filipec, K. Jirsova, SJ. Tuft, SS. Bhattacharya, AJ. Hardcastle, ND. Ebenezer,
Jazyk angličtina Země Švýcarsko
Typ dokumentu kazuistiky, časopisecké články, Research Support, N.I.H., Extramural, práce podpořená grantem
Grantová podpora
R01-EY12712
NEI NIH HHS - United States
ProQuest Central od 1998-01-01 do 2015-11-30
Health & Medicine (ProQuest) od 1998-01-01 do 2015-11-30
ROAD: Directory of Open Access Scholarly Resources od 1998
Odkazy
PubMed
18259096
DOI
10.1159/000115325
Knihovny.cz E-zdroje
- MeSH
- amyloid metabolismus MeSH
- dědičné dystrofie rohovky klasifikace genetika metabolismus MeSH
- dospělí MeSH
- extracelulární matrix - proteiny genetika MeSH
- fenotyp MeSH
- histidin MeSH
- katarakta genetika metabolismus patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mutace * MeSH
- prolin MeSH
- rohovka metabolismus patologie MeSH
- transformující růstový faktor beta genetika MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
- Geografické názvy
- Česká republika MeSH
AIMS: To evaluate mutations in the transforming-growth-factor-beta-induced (TGFBI) gene in patients of Czech origin with autosomal dominant corneal dystrophies. METHODS: The coding sequence of the TGFBI gene was analysed in 22 affected Czech individuals from 7 apparently unrelated families. Comparison of phenotype to genotype was performed. RESULTS: A H626P mutation, previously only described in a family with a variant of lattice corneal dystrophy (LCD), was detected in one family with superficial geographic corneal opacities. Light microscopy of 2 samples obtained following either a prior superficial keratectomy or keratoplasty showed amyloid but no fuchsinophilic deposits. In a family with LCD type I, an R124C mutation was identified. The R124L mutation was shown to be causative of Reis-Bucklers corneal dystrophy in 2 families. A family with Thiel-Behnke corneal dystrophy exhibited an R555Q mutation. In 2 families with granular corneal dystrophy type I, the typical R555W change was identified. CONCLUSION: The phenotype of the family with the H626P mutation differed from the phenotype previously reported for this change.
- 000
- 00000naa a2200000 a 4500
- 001
- bmc20014412
- 003
- CZ-PrNML
- 005
- 20200921152845.0
- 007
- ta
- 008
- 200918s2008 sz f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1159/000115325 $2 doi
- 035 __
- $a (PubMed)18259096
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a sz
- 100 1_
- $a Liskova, Petra $u Division of Molecular Genetics, Institute of Ophthalmology, UCL, London, UK. p.liskova@ucl.ac.uk
- 245 10
- $a Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families / $c P. Liskova, GK. Klintworth, BL. Bowling, M. Filipec, K. Jirsova, SJ. Tuft, SS. Bhattacharya, AJ. Hardcastle, ND. Ebenezer,
- 520 9_
- $a AIMS: To evaluate mutations in the transforming-growth-factor-beta-induced (TGFBI) gene in patients of Czech origin with autosomal dominant corneal dystrophies. METHODS: The coding sequence of the TGFBI gene was analysed in 22 affected Czech individuals from 7 apparently unrelated families. Comparison of phenotype to genotype was performed. RESULTS: A H626P mutation, previously only described in a family with a variant of lattice corneal dystrophy (LCD), was detected in one family with superficial geographic corneal opacities. Light microscopy of 2 samples obtained following either a prior superficial keratectomy or keratoplasty showed amyloid but no fuchsinophilic deposits. In a family with LCD type I, an R124C mutation was identified. The R124L mutation was shown to be causative of Reis-Bucklers corneal dystrophy in 2 families. A family with Thiel-Behnke corneal dystrophy exhibited an R555Q mutation. In 2 families with granular corneal dystrophy type I, the typical R555W change was identified. CONCLUSION: The phenotype of the family with the H626P mutation differed from the phenotype previously reported for this change.
- 650 _2
- $a dospělí $7 D000328
- 650 _2
- $a amyloid $x metabolismus $7 D000682
- 650 _2
- $a katarakta $x genetika $x metabolismus $x patologie $7 D002386
- 650 _2
- $a rohovka $x metabolismus $x patologie $7 D003315
- 650 _2
- $a dědičné dystrofie rohovky $x klasifikace $x genetika $x metabolismus $7 D003317
- 650 _2
- $a extracelulární matrix - proteiny $x genetika $7 D016326
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 _2
- $a histidin $7 D006639
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 _2
- $a lidé středního věku $7 D008875
- 650 12
- $a mutace $7 D009154
- 650 _2
- $a fenotyp $7 D010641
- 650 _2
- $a prolin $7 D011392
- 650 _2
- $a transformující růstový faktor beta $x genetika $7 D016212
- 651 _2
- $a Česká republika $7 D018153
- 655 _2
- $a kazuistiky $7 D002363
- 655 _2
- $a časopisecké články $7 D016428
- 655 _2
- $a Research Support, N.I.H., Extramural $7 D052061
- 655 _2
- $a práce podpořená grantem $7 D013485
- 700 1_
- $a Klintworth, Gordon K
- 700 1_
- $a Bowling, Brandy L
- 700 1_
- $a Filipec, Martin
- 700 1_
- $a Jirsova, Katerina
- 700 1_
- $a Tuft, Stephen J
- 700 1_
- $a Bhattacharya, Shomi S
- 700 1_
- $a Hardcastle, Alison J
- 700 1_
- $a Ebenezer, Neil D
- 773 0_
- $w MED00003616 $t Ophthalmic research $x 1423-0259 $g Roč. 40, č. 2 (2008), s. 105-108
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/18259096 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y a $z 0
- 990 __
- $a 20200918 $b ABA008
- 991 __
- $a 20200921152845 $b ABA008
- 999 __
- $a ok $b bmc $g 1565264 $s 1104570
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2008 $b 40 $c 2 $d 105-108 $e 20080206 $i 1423-0259 $m Ophthalmic research $n Ophthalmic Res $x MED00003616
- GRA __
- $a R01-EY12712 $p NEI NIH HHS $2 United States
- LZP __
- $a Pubmed-20200918