title: C14orf132 gene is possibly related to extremely low birth weight.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Obstetrics and Gynaecology, University of Tartu, 8 Puusepa Street, 51014, Tartu, Estonia. Airi.Tiirats@kliinikum.ee.
authors.forename: Airi
authors.identifier: http://orcid.org/0000-0002-5692-0469
authors.initials: A
authors.lastname: Tiirats
authors.affiliation: Competence Centre on Health Technologies, Tartu, Estonia.|Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.
authors.forename: Triin
authors.initials: T
authors.lastname: Viltrop
authors.affiliation: Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.|Estonian Genome Centre, University of Tartu, Tartu, Estonia.
authors.forename: Margit
authors.initials: M
authors.lastname: Nõukas
authors.affiliation: Core Facility of Clinical Genomics, University of Tartu, Tartu, Estonia.|Department of Pathophysiology, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.
authors.forename: Ene
authors.initials: E
authors.lastname: Reimann
authors.affiliation: Department of Obstetrics and Gynaecology, University of Tartu, 8 Puusepa Street, 51014, Tartu, Estonia.|Competence Centre on Health Technologies, Tartu, Estonia.|Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.|Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
authors.forename: Andres
authors.initials: A
authors.lastname: Salumets
authors.affiliation: Department of Pathophysiology, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.|Centre of Translational Medicine, University of Tartu, Tartu, Estonia.|Department of Reproductive Biology, Estonian University of Life Sciences, Tartu, Estonia.
authors.forename: Sulev
authors.initials: S
authors.lastname: Kõks
keywords: C14orf132; Copy number variants; Extremely low birth weight; RNA-seq and long non-coding RNA