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Differentially Expressed Genes in EEC and LMS Syndromes
Wei Yin1, Yaling Song2, Yangge Du3
1Key Laboratory of Oral Biomedical Engineering of the Ministry of Education, Hospital and School of Stomatology, Wuhan University, Wuhan, Hubei, China; Department of Endodontics & Periodontics, College of Stomatology, Dalian Medical University, Dalian, Liaoning, China.
Plos One
|June 16, 2015
Summary
Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome and limb-mammary syndrome (LMS) are difficult to distinguish. Peripheral blood cytokines show promise as a biomarker to differentiate between EEC and LMS, aiding in diagnosis.
Area of Science:
- Genetics
- Molecular Biology
- Clinical Diagnostics
Background:
- Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome and limb-mammary syndrome (LMS) present similar phenotypes and share the same causative gene.
- Distinguishing between EEC and LMS is clinically challenging due to overlapping symptoms.
Purpose of the Study:
- To identify a practical clinical biomarker for differentiating EEC from LMS.
- To investigate molecular genetic differences between EEC and LMS patients.
Main Methods:
- Reanalysis of two EEC and one LMS pedigree with confirmed causative mutations.
- Whole-genome expression microarray analysis to assess molecular genetic changes.
Main Results:
- Five new patients with classic symptoms were identified, all carrying the same mutations.
- Significant differences in gene expression profiles were observed between EEC and LMS patients.
- Over 5,000 genes were differentially expressed, with key pathways including apoptosis, hematopoietic cell lineage, and Toll-like receptor signaling.
Conclusions:
- Peripheral blood cytokines show potential as a biomarker for distinguishing EEC and LMS.
- The study provides valuable clinical and molecular insights into EEC and LMS.
- Further research into cytokine profiles could refine diagnostic strategies for these syndromes.
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