Sequence analysis of candidate genes in two Roma families with severe tooth agenesis
Selective tooth agenesis is the most common congenital disorder affecting the formation of dentition in humans. Both its forms (hypodontia and more severe oligodontia) can be found either in isolated form and they can be associated with systemic condition (syndromic tooth agenesis). In addition to p...
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Published in | Genetika (Beograd) Vol. 48; no. 3; pp. 945 - 954 |
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Main Authors | , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
2016
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Online Access | Get full text |
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Summary: | Selective tooth agenesis is the most common congenital disorder affecting the
formation of dentition in humans. Both its forms (hypodontia and more severe
oligodontia) can be found either in isolated form and they can be associated
with systemic condition (syndromic tooth agenesis). In addition to previously
known genes (PAX9, MSX1 and AXIN2) mutations in EDA, EDARADD and WNT10 gene
were recently found to be involved in isolated forms of tooth agenesis. The
objective of this study was to characterize the phenotype of affected members
in two large families of Roma origin segregating severe isolated tooth
agenesis with very variable phenotype and to perform mutation analysis of
seven genes with aim to find causal mutation. 26 family members were
clinically examined and coding regions of seven genes (MSX1, PAX9, AXIN2,
EDA, EDAR, EDARADD and WNT10A) were sequenced. With exclusion of third
molars, average number of missing teeth was 8.2 ? 4.9 in family 1 and 7.1 ?
2.3 in family 2. The most frequently missing teeth were maxillary lateral
incisors and first premolars and mandibular central incisors. Sequencing
revealed four potentially damaging variants (g.Ala40Gly in MSX1, g.Ala240Pro
in PAX9, g.Pro50Ser in AXIN2 and g.Met9Ile in EDARADD); however, none of them
was present in all affected family members. Variable phenotype in both
families examined in this study is in favour of heterogeneous genetic cause
of tooth agenesis in these families: possible interaction of several defected
genes, sequence variants in regulatory regions and additional environmental
factors is assumed.
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ISSN: | 0534-0012 1820-6069 |
DOI: | 10.2298/GENSR1603945G |