WNT10A variants: following the pattern of inheritance in tooth
agenesis and self-reported family history of cancer

J 2022

WNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer

BIELIK, Peter, Ondřej BONCZEK, Přemysl KREJČÍ, Tomáš ZEMAN, Lydie IZAKOVIČOVÁ HOLLÁ et. al.

Basic information

Original name

WNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer

Authors

BIELIK, Peter (703 Slovakia, belonging to the institution), Ondřej BONCZEK (203 Czech Republic), Přemysl KREJČÍ (203 Czech Republic), Tomáš ZEMAN (203 Czech Republic, belonging to the institution), Lydie IZAKOVIČOVÁ HOLLÁ (203 Czech Republic, belonging to the institution), Jana ŠOUKALOVÁ (203 Czech Republic, belonging to the institution), Jiří VANĚK (203 Czech Republic, belonging to the institution), Bořivoj VOJTĚŠEK (203 Czech Republic), Jan LOCHMAN (203 Czech Republic, belonging to the institution), Vladimír Josef BALCAR (36 Australia) and Omar ŠERÝ (203 Czech Republic, guarantor, belonging to the institution)

Edition

Clinical Oral Investigations, Heidelberg, Springer Heidelberg, 2022, 1432-6981

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

10608 Biochemistry and molecular biology

Country of publisher

Germany

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 3.400

RIV identification code

RIV/00216224:14310/22:00128845

Organization unit

Faculty of Science

DOI

http://dx.doi.org/10.1007/s00784-022-04664-x

UT WoS

000843714700001

Keywords in English

WNT10A variants; WNT pathway; Hypodontia; Oligodontia; DNA sequencing; Cancer

Abstract

V originále

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.

Links

NT11420, research and development project

Name: Molekulární diagnostika hypodoncie a možnosti zubních autotransplantací

Citovat

BIELIK, Peter, Ondřej BONCZEK, Přemysl KREJČÍ, Tomáš ZEMAN, Lydie IZAKOVIČOVÁ HOLLÁ, Jana ŠOUKALOVÁ, Jiří VANĚK, Bořivoj VOJTĚŠEK, Jan LOCHMAN, Vladimír Josef BALCAR and 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, vol. 26, No 12, p. 7045-7055. ISSN 1432-6981. Available from: https://dx.doi.org/10.1007/s00784-022-04664-x.

@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 and 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, vol.~26, No~12, p.~7045-7055. ISSN~1432-6981. Available from: https://dx.doi.org/10.1007/s00784-022-04664-x.

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