Abstract | BACKGROUND: METHODS: The present study investigated a family with SHFM and hypodontia; determined the sequences of DLX5, WNT8B, WNT10B, BHLHA9, CDH3, DYNC1I1 and FGFR1; and performed single nucleotide polymorphism-array analysis. We detected the mutation by multiple sequence alignments and a bioinformatic prediction. RESULTS: We identified a novel missense mutation of TP63 (c.1010G>T; R337L) in the family without mutations of DLX5, WNT8B, WNT10B, BHLHA9, CDH3, DYNC1I1, FGFR1 and copy number variants causing SHFM. CONCLUSIONS: A mutation of TP63 (c.1010G>T; R337L) leads to SHFM with hypodontia. The identification of this mutation expands the spectrum of known TP63 mutations and also may contribute to novel approaches for the genetic diagnosis and counseling of families with TP63-related disorders.
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Authors | Jie-Yuan Jin, Lei Zeng, Ke Li, Ji-Qiang He, Xiaoyang Pang, Hao Huang, Rong Xiang, Ju-Yu Tang |
Journal | The journal of gene medicine
(J Gene Med)
Vol. 21
Issue 10
Pg. e3122
(10 2019)
ISSN: 1521-2254 [Electronic] England |
PMID | 31420900
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | © 2019 John Wiley & Sons, Ltd. |
Chemical References |
- TP63 protein, human
- Transcription Factors
- Tumor Suppressor Proteins
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Topics |
- Adult
- Alleles
- Amino Acid Substitution
- Anodontia
(diagnosis, genetics)
- Child
- Computational Biology
- DNA Mutational Analysis
- Female
- Genetic Association Studies
- Genetic Predisposition to Disease
- Humans
- Limb Deformities, Congenital
(diagnosis, genetics)
- Male
- Mutation
- Pedigree
- Phenotype
- Polymorphism, Single Nucleotide
- Radiography
- Syndrome
- Transcription Factors
(genetics)
- Tumor Suppressor Proteins
(genetics)
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