Analysis of in fetal growth restriction and pregnancy loss.

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ID: 59685
2019
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Abstract
Cyclin-dependent kinase inhibitor 1C (CDKN1C) is a key negative regulator of cell growth encoded by a paternally imprinted/maternally expressed gene in humans. Loss-of-function variants in are associated with an overgrowth condition (Beckwith-Wiedemann Syndrome) whereas "gain-of-function" variants in that increase protein stability cause growth restriction as part of IMAGe syndrome ( Intrauterine growth restriction, Metaphyseal dysplasia, Adrenal hypoplasia and Genital anomalies). As two families have been reported with mutations who have fetal growth restriction (FGR)/Silver-Russell syndrome (SRS) adrenal insufficiency, we investigated whether pathogenic variants in could be associated with isolated growth restriction or recurrent loss of pregnancy. Analysis of published literature was undertaken to review the localisation of variants in associated with IMAGe syndrome or fetal growth restriction. expression in different tissues was analysed in available RNA-Seq data (Human Protein Atlas). Targeted sequencing was used to investigate the critical region of for potential pathogenic variants in SRS (n=58), FGR (n=26), DNA from spontaneous loss of pregnancy (n= 21) and women with recurrent miscarriages (n=71) (total n=176). All published single nucleotide variants associated with IMAGe syndrome are located in a highly-conserved "hot-spot" within the PCNA-binding domain of CDKN1C between codons 272-279. Variants associated with familial growth restriction but normal adrenal function currently affect codons 279 and 281. is highly expressed in the placenta compared to adult tissues, which may contribute to the FGR phenotype and supports a role in pregnancy maintenance. In the patient cohorts studied no pathogenic variants were identified in the PCNA-binding domain of CDKN1C. CDKN1C is a key negative regulator of growth. Variants in a very localised "hot-spot" cause growth restriction, with or without adrenal insufficiency. However, pathogenic variants in this region are not a common cause of isolated fetal growth restriction phenotypes or loss-of-pregnancy/recurrent miscarriages.
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suntharalingham2019analysisf1000research Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Suntharalingham, Jenifer P;Ishida, Miho;Buonocore, Federica;Del Valle, Ignacio;Solanky, Nita;Demetriou, Charalambos;Regan, Lesley;Moore, Gudrun E;Achermann, John C;
Journal F1000Research
Year 2019
DOI
10.12688/f1000research.15016.1
URL
https://f1000research.com/articles/8-90/v1
Keywords
placenta fetal growth restriction cdkn1c image syndrome silver-russell syndrome adrenal intra-uterine growth restriction recurrent miscarriage

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