C14orf132 gene is possibly related to extremely low birth weight

Tiirats, Airi; Viltrop, Triin; Nõukas, Margit; Reimann, Ene; Salumets, Andres; Kõks, Sulev

C14orf132 gene is possibly related to extremely low birth weight

dc.contributor	"European Union (EU)" and "Horizon 2020"
dc.contributor.author	Tiirats, Airi
dc.contributor.author	Viltrop, Triin
dc.contributor.author	Nõukas, Margit
dc.contributor.author	Reimann, Ene
dc.contributor.author	Salumets, Andres
dc.contributor.author	Kõks, Sulev
dc.date.accessioned	2019-02-26T11:33:37Z
dc.date.available	2019-02-26T11:33:37Z
dc.date.issued	2016-09
dc.description.abstract	Background Despite extensive research the genetic component of extremely low birth weight (ELBW) in newborns has remained obscure. Results The aim of the case study was to identify candidate gene(s) causing ELBW in newborns and hypotrophy in infants. A family of four was studied: mother, father and two ELBW-phenotype children. Studies were made of the medical conditions of the second child at birth and post-partum - peculiar phenotype, micro-anomalies, recurrent infections, suspicion of autoimmune hepatitis, multifactorial encephalopathy and suspected metabolic and chromosomal abnormalities. Whole genome single nucleotide polymorphism (SNP) genotyping array was used to investigate the genomic rearrangements in both affected children using peripheral blood DNA samples. Whole blood transcriptome was assessed by using RNA sequencing (RNA-seq) in all four family members. RNA-seq identified a single gene – C14orf132 (chromosome 14 open reading frame 132) differentially expressed, with the level of the transcript significantly lower in the blood samples of the children. Copy number variant (CNV) analysis did not reveal any pathogenic CNVs in the region of C14orf132 gene of both affected children. Conclusion We demonstrated the importance of combining whole genome CNV and transcriptome analysis in identification of the candidate gene(s) in case studies. We propose the C14orf132 gene expression to be associated with the ELBW-phenotype. C14orf132 gene is a novel long non-coding RNA (lincRNA) with unknown function, which might be associated with the pre- and early postnatal developmental delay through the altered gene expression.	et
dc.identifier.uri	https://doi.org/10.1186/s12863-016-0439-5
dc.identifier.uri	http://hdl.handle.net/10062/63405
dc.language.iso	eng	et
dc.relation	info:eu-repo/grantAgreement/EC/H2020/692065///WIDENLIFE	et
dc.relation.ispartofseries	BMC genetics;17 (1), 132-132
dc.rights	info:eu-repo/semantics/openAccess	et
dc.subject	C14orf132	et
dc.subject	Copy number variants	et
dc.subject	Extremely low birth weight	et
dc.subject	RNA-seq and long non-coding RNA	et
dc.title	C14orf132 gene is possibly related to extremely low birth weight	et
dc.type	info:eu-repo/semantics/article	et