P3-0326 — Final report
1.
Mutations in SCN3A cause early infantile epileptic encephalopathy

We have fidentified new gene for human disorder in our paper "Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice.Clin Genet. 2018 May;93(5):1057-1062" and consequently provided further evidence and confirmed the finding in subsequent paper. Our findings establish SCN3A as a new gene for infantile epileptic encephalopathy and suggest a potential pharmacologic intervention. These findings also reinforce the role of Nav1.3 as an important regulator of neuronal excitability in the developing brain, while providing additional insight into mechanisms of slow inactivation of Nav1.3.

COBISS.SI-ID: 4688812
2.
Comprehensive use of extended exome analysis improves diagnostic yield in rare disease

We showed that original approach of extended exome analysis approaches improve the diagnostic yield of heterogeneous genetic disorders and result in considerable increase of diagnostic yield of exome sequencing with a minor increase of interpretative workload.

COBISS.SI-ID: 4601516
3.
Non-ablative Er:YAG laser therapy effect on stress urinary incontinence related to quality of life and sexual function

We showed that the non-ablative Er:YAG laser therapy improves the impact of SUI symptoms on quality of life and sexual function in premenopausal parous women significantly better than placebo. It provides a promising minimally-invasive safe treatment alternative for SUI.

COBISS.SI-ID: 4793004
4.
An organismal CNV mutator phenotype restricted to early human development

We proposed that a defect in the CNV formation process is responsible for the "CNV-mutator state," and this state is dampened after early embryogenesis. The constitutional MdnCNV phenomenon resembles chromosomal instability in various cancers.

COBISS.SI-ID: 3827116
5.
Transcriptome profiling uncovers potential common mechanisms in fetal trisomies 18 and 21

This is the first study to use global GE profiling data to identify potential common mechanisms in fetal trisomies. Studies of other trisomies using transcriptomics and multiomics approaches might further clarify mechanisms activated in trisomy syndromes.

COBISS.SI-ID: 4722348
6.
De novo mutations in SLC25A24 cause a disorder characterized by early aging, bone dysplasia, characteristic face, and early demise

Our findings identify SLC25A24 mutations affecting codon 217 as the underlying genetic cause of human progeroid Fontaine syndrome.

COBISS.SI-ID: 30967847
7.
Systematic review and meta-analysis of genetic association studies in idiopathic recurrent spontaneous abortion.

We provided evidence that candidate gene studies show moderate associations with IRSA. Owing to large differences in RSA definition and selection criteria for participants, consensus is needed. Future GASs should include both partners and spontaneously aborted embryos. Genome-wide association studies and large-scale replications of identified associations are recommended.

8.
Responsible implementation of expanded carrier screening

New genetic testing technologies enable the expansion of screening to multiple conditions, genes or sequence variants. This document discusses the challenges that expanded carrier screening might pose in the context of the lessons learnt from decades of population-based carrier screening and in the context of existing screening criteria. It aims to contribute to the public and professional discussion and to arrive at better clinical and laboratory practice guidelines.

COBISS.SI-ID: 2875564
9.
Transcriptomic analysis and meta-analysis of human granulosa and cumulus cells

We have shown that pathways like inflammatory response and angiogenesis were enriched in GC, whereas in CC, cell differentiation and multicellular organismal development were among enriched pathways. In conclusion, transcriptomes of GC and CC as well as biological functions, are distinctive for each cell subpopulation. By describing novel genes like PROK2 and PNCK, expressed in GC and CC, we upgraded the existing data on human follicular biology.

COBISS.SI-ID: 38873389
10.
Liraglutide increases IVF pregnancy rates in obese PCOS women with poor response to first-line reproductive treatments

We have shown that preconception intervention with low-dose liraglutide added to metformin is superior to metformin alone in increasing PRs per ET and cumulative PRs in infertile obese women with PCOS, despite comparable weight reduction in both groups. A potential impact of liraglutide on the reproductive system needs further exploration, in particular the GLP-1 impact on endometrial quality and receptivity.

COBISS.SI-ID: 33746393