Affiliation:
1. State Scientific Institution “Institute of Genetics and Cytology of the National Academy of Sciences of Belarus”
2. Health Care Institution “City Clinical Pathology Bureau”
3. Health Care Institution “5th City Clinical Hospital”
4. State Educational Institution “Belarusian Medical Academy of Postgraduate Education”
Abstract
The aim of the study was to establish the role of pathological clinical and laboratory characteristics of the course of the neonatal period, the data of morphological and molecular genetic studies in the thanatogenesis of a case of alveolar capillary dysplasia (ACD) in a newborn. ACD is a rare lethal neonatal lung developmental disorder, the development of
which is caused in most cases by point mutations in the FOXF1 gene or deletion in the q24.1 region of chromosome 16.
High-throughput whole-exome sequencing was performed in the child Sh. using the Illumina-IDT Exome Enrichment Protocol on the NextSeq 550 sequencer. A key role in the thanatogenesis of severe respiratory failure was existing alveolocapillary dysplasia in a child, which was confirmed by morphological data. Genetic analysis did not reveal pathogenic variants in FOXF1, PLXNB2, DOCK8, MPRIP, ESRP1, SLC50A1, and ZMYND11 genes, as well as deletions in regions L17941 and L29692 q24.1 of chromosome 16. In order to identify LINC01081 and LINC01082 deletions,
it is necessary to develop additional bioinformatic algorithms.
Publisher
National Academy of Sciences of Belarus
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