In:
Human Genome Variation, Springer Science and Business Media LLC, Vol. 10, No. 1 ( 2023-01-26)
Abstract:
Congenital tooth agenesis is one of the most common anomalies in humans. Many genetic factors are involved in tooth development, including MSX1 , PAX9 , WNT10A , and LRP6 . Thus, mutations in these genes can cause congenital tooth agenesis in humans. In this study, we identified a novel nonsense WNT10A variant, NM_025216.3(WNT10A_v001):c.1090A 〉 T, which produces a C-terminal truncated gene product, p.(Lys364*), in a sporadic form of congenital tooth agenesis. The variant was not found in the healthy parents and thus was considered to cause congenital tooth agenesis in the case.
Type of Medium:
Online Resource
ISSN:
2054-345X
DOI:
10.1038/s41439-023-00230-3
Language:
English
Publisher:
Springer Science and Business Media LLC
Publication Date:
2023
detail.hit.zdb_id:
2863697-1
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