| BIELIK, Peter, Ondřej BONCZEK, Přemysl KREJČÍ, Tomáš ZEMAN, Lydie IZAKOVIČOVÁ HOLLÁ, Jana ŠOUKALOVÁ, Jiří VANĚK, Bořivoj VOJTĚŠEK, Jan LOCHMAN, Vladimír Josef BALCAR a Omar ŠERÝ. WNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer. Clinical Oral Investigations. Heidelberg: Springer Heidelberg, 2022, roč. 26, č. 12, s. 7045-7055. ISSN 1432-6981. Dostupné z: https://dx.doi.org/10.1007/s00784-022-04664-x. |
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@article{2266120,
author = {Bielik, Peter and Bonczek, Ondřej and Krejčí, Přemysl and Zeman, Tomáš and Izakovičová Hollá, Lydie and Šoukalová, Jana and Vaněk, Jiří and Vojtěšek, Bořivoj and Lochman, Jan and Balcar, Vladimír Josef and Šerý, Omar},
article_location = {Heidelberg},
article_number = {12},
doi = {http://dx.doi.org/10.1007/s00784-022-04664-x},
keywords = {WNT10A variants; WNT pathway; Hypodontia; Oligodontia; DNA sequencing; Cancer},
language = {eng},
issn = {1432-6981},
journal = {Clinical Oral Investigations},
title = {WNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer},
url = {https://link.springer.com/article/10.1007/s00784-022-04664-x},
volume = {26},
year = {2022}
}
TY - JOUR
ID - 2266120
AU - Bielik, Peter - Bonczek, Ondřej - Krejčí, Přemysl - Zeman, Tomáš - Izakovičová Hollá, Lydie - Šoukalová, Jana - Vaněk, Jiří - Vojtěšek, Bořivoj - Lochman, Jan - Balcar, Vladimír Josef - Šerý, Omar
PY - 2022
TI - WNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer
JF - Clinical Oral Investigations
VL - 26
IS - 12
SP - 7045-7055
EP - 7045-7055
PB - Springer Heidelberg
SN - 14326981
KW - WNT10A variants
KW - WNT pathway
KW - Hypodontia
KW - Oligodontia
KW - DNA sequencing
KW - Cancer
UR - https://link.springer.com/article/10.1007/s00784-022-04664-x
N2 - 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.
ER -
BIELIK, Peter, Ondřej BONCZEK, Přemysl KREJČÍ, Tomáš ZEMAN, Lydie IZAKOVIČOVÁ HOLLÁ, Jana ŠOUKALOVÁ, Jiří VANĚK, Bořivoj VOJTĚŠEK, Jan LOCHMAN, Vladimír Josef BALCAR a Omar ŠERÝ. WNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer. \textit{Clinical Oral Investigations}. Heidelberg: Springer Heidelberg, 2022, roč.~26, č.~12, s.~7045-7055. ISSN~1432-6981. Dostupné z: https://dx.doi.org/10.1007/s00784-022-04664-x.
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