Abstract
BackgroundDespite extensive research the genetic component of extremely low birth weight (ELBW) in newborns has remained obscure.ResultsThe 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.ConclusionWe 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.Electronic supplementary materialThe online version of this article (doi:10.1186/s12863-016-0439-5) contains supplementary material, which is available to authorized users.
Highlights
Despite extensive research the genetic component of extremely low birth weight (ELBW) in newborns has remained obscure
The RNA of C14orf132 was not detected with RNA sequencing (RNA-seq)
The difference in C14orf132 gene expression was found to be unique for the subject family, as similar gene expression was shown for parents and children in control families (Fig. 1)
Summary
Despite extensive research the genetic component of extremely low birth weight (ELBW) in newborns has remained obscure. Preterm birth is a major cause of morbidity and mortality among newborns. Complications of preterm birth are the largest cause of neonatal deaths, responsible for 35 % of the 3.1 million deaths a year worldwide [1]. Population-based cohort studies of low birth weight infants have shown that reduced birth weight is associated with a wide range of health, cognitive and behavioural difficulties in child- and adulthood [2]. Lower birth weight is even associated with increased all-cause mortality at all ages among adult women [3]. These adverse sequelae are thought to arise via epigenetic mechanisms of foetal and placental development. Genetic factors have shown to play a
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