-
Je něco špatně v tomto záznamu ?
WNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer
P. Bielik, O. Bonczek, P. Krejčí, T. Zeman, L. Izakovičová-Hollá, J. Šoukalová, J. Vaněk, B. Vojtěšek, J. Lochman, VJ. Balcar, O. Šerý
Jazyk angličtina Země Německo
Typ dokumentu časopisecké články
NLK
ProQuest Central
od 1997-03-01 do Před 1 rokem
Health & Medicine (ProQuest)
od 1997-03-01 do Před 1 rokem
Public Health Database (ProQuest)
od 1997-03-01 do Před 1 rokem
- MeSH
- anodoncie * genetika MeSH
- fenotyp MeSH
- lidé MeSH
- mladiství MeSH
- mutace MeSH
- nádory * MeSH
- proteiny Wnt genetika MeSH
- zpráva o sobě MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Česká republika MeSH
OBJECTIVES: The aim of this study was the analysis of WNT10A variants in seven families of probands with various forms of tooth agenesis and self-reported family history of cancer. MATERIALS AND METHODS: We enrolled 60 young subjects (aged 13 to 17) from the Czech Republic with various forms of tooth agenesis. Dental phenotypes were assessed using Planmeca ProMax 3D (Planmeca Oy, Finland) with Planmeca Romexis software (version 2.9.2) together with oral examinations. After screening PAX9, MSX1, EDA, EDAR, AXIN2 and WNT10A genes on the Illumina MiSeq platform (Illumina, USA), we further analyzed the evolutionarily highly conserved WNT10A gene by capillary sequencing in the seven families. RESULTS: All the detected variants were heterozygous or compound heterozygous with various levels of phenotypic expression. The most severe phenotype (oligodontia) was found in a proband who was compound heterozygous for the previously identified WNT10A variant p.Phe228Ile and a newly discovered c.748G > A variant (p.Gly250Arg) of WNT10A. The newly identified variant causes substitution of hydrophobic glycine for hydrophilic arginine. CONCLUSIONS: We suggest that the amino acid changes in otherwise highly conserved sequences significantly affect the dental phenotype. No relationship between the presence of WNT10A variants and a risk of cancer has been found. CLINICAL RELEVANCE: Screening of PAX9, MSX1, EDA, EDAR, AXIN2 and WNT10A genes in hope to elucidate the pattern of inheritance in families.
Research Centre for Applied Molecular Oncology Masaryk Memorial Cancer Institute Brno Czech Republic
- 000
- 00000naa a2200000 a 4500
- 001
- bmc22032460
- 003
- CZ-PrNML
- 005
- 20230131150827.0
- 007
- ta
- 008
- 230120s2022 gw f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1007/s00784-022-04664-x $2 doi
- 035 __
- $a (PubMed)35999385
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a gw
- 100 1_
- $a Bielik, Peter $u Laboratory of Neurobiology and Molecular Psychiatry, Department of Biochemistry, Faculty of Science, Masaryk University, Kamenice 5, 625 00, Brno, Czech Republic
- 245 10
- $a WNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer / $c P. Bielik, O. Bonczek, P. Krejčí, T. Zeman, L. Izakovičová-Hollá, J. Šoukalová, J. Vaněk, B. Vojtěšek, J. Lochman, VJ. Balcar, O. Šerý
- 520 9_
- $a OBJECTIVES: The aim of this study was the analysis of WNT10A variants in seven families of probands with various forms of tooth agenesis and self-reported family history of cancer. MATERIALS AND METHODS: We enrolled 60 young subjects (aged 13 to 17) from the Czech Republic with various forms of tooth agenesis. Dental phenotypes were assessed using Planmeca ProMax 3D (Planmeca Oy, Finland) with Planmeca Romexis software (version 2.9.2) together with oral examinations. After screening PAX9, MSX1, EDA, EDAR, AXIN2 and WNT10A genes on the Illumina MiSeq platform (Illumina, USA), we further analyzed the evolutionarily highly conserved WNT10A gene by capillary sequencing in the seven families. RESULTS: All the detected variants were heterozygous or compound heterozygous with various levels of phenotypic expression. The most severe phenotype (oligodontia) was found in a proband who was compound heterozygous for the previously identified WNT10A variant p.Phe228Ile and a newly discovered c.748G > A variant (p.Gly250Arg) of WNT10A. The newly identified variant causes substitution of hydrophobic glycine for hydrophilic arginine. CONCLUSIONS: We suggest that the amino acid changes in otherwise highly conserved sequences significantly affect the dental phenotype. No relationship between the presence of WNT10A variants and a risk of cancer has been found. CLINICAL RELEVANCE: Screening of PAX9, MSX1, EDA, EDAR, AXIN2 and WNT10A genes in hope to elucidate the pattern of inheritance in families.
- 650 _2
- $a lidé $7 D006801
- 650 12
- $a anodoncie $x genetika $7 D000848
- 650 _2
- $a mutace $7 D009154
- 650 12
- $a nádory $7 D009369
- 650 _2
- $a fenotyp $7 D010641
- 650 _2
- $a zpráva o sobě $7 D057566
- 650 _2
- $a proteiny Wnt $x genetika $7 D051153
- 650 _2
- $a mladiství $7 D000293
- 651 _2
- $a Česká republika $7 D018153
- 655 _2
- $a časopisecké články $7 D016428
- 700 1_
- $a Bonczek, Ondřej $u Research Centre for Applied Molecular Oncology, Masaryk Memorial Cancer Institute, Brno, Czech Republic
- 700 1_
- $a Krejčí, Přemysl $u Institute of Dentistry and Oral Sciences, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic
- 700 1_
- $a Zeman, Tomáš $u Laboratory of Neurobiology and Molecular Psychiatry, Department of Biochemistry, Faculty of Science, Masaryk University, Kamenice 5, 625 00, Brno, Czech Republic $u Laboratory of Neurobiology and Pathological Physiology, Institute of Animal Physiology and Genetics, The Academy of Sciences of the Czech Republic, Brno, Czech Republic
- 700 1_
- $a Izakovičová-Hollá, Lydie $u Department of Stomatology, Institution Shared With St. Anne's University Hospital, Faculty of Medicine, Masaryk University, Brno, Czech Republic
- 700 1_
- $a Šoukalová, Jana $u Department of Stomatology, Institution Shared With St. Anne's University Hospital, Faculty of Medicine, Masaryk University, Brno, Czech Republic
- 700 1_
- $a Vaněk, Jiří $u Department of Stomatology, Institution Shared With St. Anne's University Hospital, Faculty of Medicine, Masaryk University, Brno, Czech Republic
- 700 1_
- $a Vojtěšek, Bořivoj $u Research Centre for Applied Molecular Oncology, Masaryk Memorial Cancer Institute, Brno, Czech Republic
- 700 1_
- $a Lochman, Jan $u Laboratory of Neurobiology and Molecular Psychiatry, Department of Biochemistry, Faculty of Science, Masaryk University, Kamenice 5, 625 00, Brno, Czech Republic $u Laboratory of Neurobiology and Pathological Physiology, Institute of Animal Physiology and Genetics, The Academy of Sciences of the Czech Republic, Brno, Czech Republic
- 700 1_
- $a Balcar, Vladimir J $u Laboratory of Neurobiology and Pathological Physiology, Institute of Animal Physiology and Genetics, The Academy of Sciences of the Czech Republic, Brno, Czech Republic $u Faculty of Medicine and Health, Sydney Medical School, The University of Sydney, Sydney, NSW, 2006, Australia
- 700 1_
- $a Šerý, Omar $u Laboratory of Neurobiology and Molecular Psychiatry, Department of Biochemistry, Faculty of Science, Masaryk University, Kamenice 5, 625 00, Brno, Czech Republic. omarsery@sci.muni.cz $u Laboratory of Neurobiology and Pathological Physiology, Institute of Animal Physiology and Genetics, The Academy of Sciences of the Czech Republic, Brno, Czech Republic. omarsery@sci.muni.cz $1 https://orcid.org/0000000260628997
- 773 0_
- $w MED00005714 $t Clinical oral investigations $x 1436-3771 $g Roč. 26, č. 12 (2022), s. 7045-7055
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/35999385 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y p $z 0
- 990 __
- $a 20230120 $b ABA008
- 991 __
- $a 20230131150823 $b ABA008
- 999 __
- $a ok $b bmc $g 1891302 $s 1183795
- BAS __
- $a 3
- BAS __
- $a PreBMC-MEDLINE
- BMC __
- $a 2022 $b 26 $c 12 $d 7045-7055 $e 20220824 $i 1436-3771 $m Clinical oral investigations $n Clin Oral Investig $x MED00005714
- LZP __
- $a Pubmed-20230120
