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Differentially Expressed Genes in EEC and LMS Syndromes

OBJECTIVES: Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome and limb-mammary syndrome (LMS) share a similar phenotype and the same pathogenic gene, which complicates the ability to distinguish between these diagnoses. The current study aims to identify a potential and practical cli...

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Autores principales: Yin, Wei, Song, Yaling, Du, Yangge, Bian, Zhuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4468125/
https://www.ncbi.nlm.nih.gov/pubmed/26075610
http://dx.doi.org/10.1371/journal.pone.0129432
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author Yin, Wei
Song, Yaling
Du, Yangge
Bian, Zhuan
author_facet Yin, Wei
Song, Yaling
Du, Yangge
Bian, Zhuan
author_sort Yin, Wei
collection PubMed
description OBJECTIVES: Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome and limb-mammary syndrome (LMS) share a similar phenotype and the same pathogenic gene, which complicates the ability to distinguish between these diagnoses. The current study aims to identify a potential and practical clinical biomarker to distinguish EEC from LMS. METHODS: Two EEC pedigrees and one LMS pedigree that have been previously reported were reanalyzed. After confirmation of the causative mutations for these new patients, whole-genome expression microarray analysis was performed to assess the molecular genetic changes in these families. RESULTS: Five new patients with classic symptoms were reported, and these individuals exhibited the same mutation as their relatives (c.812 G>C; c.611G>A; and c.680G>A). According to the whole genome expression results, the EEC patients exhibited different gene expression characteristics compared with the LMS patients. More than 5,000 genes were differentially expressed (changes >2 or <0.5-fold) among the EEC patients, LMS patients and healthy individuals. The top three altered pathways have been implicated in apoptosis, the hematopoietic cell lineage and the Toll-like receptor signaling pathway. CONCLUSION: Our results provide additional clinical and molecular information regarding EEC and LMS and suggest that peripheral blood cytokines may represent a promising clinical biomarker for the diagnosis of these syndromes.
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spelling pubmed-44681252015-06-25 Differentially Expressed Genes in EEC and LMS Syndromes Yin, Wei Song, Yaling Du, Yangge Bian, Zhuan PLoS One Research Article OBJECTIVES: Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome and limb-mammary syndrome (LMS) share a similar phenotype and the same pathogenic gene, which complicates the ability to distinguish between these diagnoses. The current study aims to identify a potential and practical clinical biomarker to distinguish EEC from LMS. METHODS: Two EEC pedigrees and one LMS pedigree that have been previously reported were reanalyzed. After confirmation of the causative mutations for these new patients, whole-genome expression microarray analysis was performed to assess the molecular genetic changes in these families. RESULTS: Five new patients with classic symptoms were reported, and these individuals exhibited the same mutation as their relatives (c.812 G>C; c.611G>A; and c.680G>A). According to the whole genome expression results, the EEC patients exhibited different gene expression characteristics compared with the LMS patients. More than 5,000 genes were differentially expressed (changes >2 or <0.5-fold) among the EEC patients, LMS patients and healthy individuals. The top three altered pathways have been implicated in apoptosis, the hematopoietic cell lineage and the Toll-like receptor signaling pathway. CONCLUSION: Our results provide additional clinical and molecular information regarding EEC and LMS and suggest that peripheral blood cytokines may represent a promising clinical biomarker for the diagnosis of these syndromes. Public Library of Science 2015-06-15 /pmc/articles/PMC4468125/ /pubmed/26075610 http://dx.doi.org/10.1371/journal.pone.0129432 Text en © 2015 Yin et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Yin, Wei
Song, Yaling
Du, Yangge
Bian, Zhuan
Differentially Expressed Genes in EEC and LMS Syndromes
title Differentially Expressed Genes in EEC and LMS Syndromes
title_full Differentially Expressed Genes in EEC and LMS Syndromes
title_fullStr Differentially Expressed Genes in EEC and LMS Syndromes
title_full_unstemmed Differentially Expressed Genes in EEC and LMS Syndromes
title_short Differentially Expressed Genes in EEC and LMS Syndromes
title_sort differentially expressed genes in eec and lms syndromes
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4468125/
https://www.ncbi.nlm.nih.gov/pubmed/26075610
http://dx.doi.org/10.1371/journal.pone.0129432
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