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| Status |
Public on Dec 01, 2023 |
| Title |
Biallelic variant in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations through altered WNT signalling |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
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| Summary |
We found a homozygous duplication of three base pairs in LEF1 (c.69_71dupGAT; p.M23_I24insM) in patient manifesting ectrodactyly ectrodermal dysplasia syndrome without cleft lip/palate. We aim to elucidate the consequences of this homozygous LEF1 varinat on transcriptome profiling of the patient compared to age matched control. Collectively, we observed differential expression of genes involved in the the canonical WNT pathway. Interestingly, 30 out of 39 known HOX genes were significantly differentially expressed.
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| Overall design |
We concluded that the identified LEF1 variant disturb the canonical WNT signaling pathway.
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| Contributor(s) |
Alawbathani S, Wagle P, Nürnberg P, Hussain MS |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| |
| Submission date |
Dec 10, 2021 |
| Last update date |
Dec 01, 2023 |
| Contact name |
Muhammad Sajid Hussain |
| E-mail(s) |
mhussain@uni-koeln.de, mhussain@daad-alumni.de
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| Phone |
+4922147896808
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| Organization name |
University of Cologne
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| Department |
Cologne Center for Genomics
|
| Street address |
Weyertal 115b
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| City |
Cologne |
| ZIP/Postal code |
50931 |
| Country |
Germany |
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| Platforms (1) |
| GPL11154 |
Illumina HiSeq 2000 (Homo sapiens) |
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| Samples (4)
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| Relations |
| BioProject |
PRJNA787792 |
| SRA |
SRP350200 |
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