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Series GSE190621 Query DataSets for GSE190621
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
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.
Overall design We concluded that the identified LEF1 variant disturb the canonical WNT signaling pathway.
Contributor(s) Alawbathani S, Wagle P, Nürnberg P, Hussain MS
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Submission date Dec 10, 2021
Last update date Dec 01, 2023
Contact name Muhammad Sajid Hussain
Phone +4922147896808
Organization name University of Cologne
Department Cologne Center for Genomics
Street address Weyertal 115b
City Cologne
ZIP/Postal code 50931
Country Germany
Platforms (1)
GPL11154 Illumina HiSeq 2000 (Homo sapiens)
Samples (4)
GSM5726752 65141_YHFLEF1_P [mutant]
GSM5726753 81417_HF_P2 [mutant]
GSM5726754 65142_YHF_K [WT]
BioProject PRJNA787792
SRA SRP350200

Download family Format
SOFT formatted family file(s) SOFTHelp
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Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE190621_FPKM_salem.txt.gz 655.8 Kb (ftp)(http) TXT
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Raw data are available in SRA
Processed data are available on Series record

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