CLINICAL MANIFESTATIONS OF SITUS INVERSUS IN PATIENTS IN THE REPUBLIC OF BELARUS

He article describes clinical manifestations in patients with situs inversus. A high frequency of congenital heart defects was established in probands with situs inversus totalis (43 %), in probands with situs inversus incompletus (100 %). Malformations of the spleen are often associated with situs inversus: asplenia was diagnosed in 14.2 %, polysplenia - in 10.7 % of observations. Congenital malformations of the gastrointestinal tract, namely, mirror position of the abdominal organs were present in all observations, duodenal atresia and annular pancreas were also recorded. Signs of primary ciliary dyskinesia were diagnosed in 50 % of live births with situs inversus totalis, which manifested themselves as early manifestation of symptoms of total damage to the respiratory system (sinusitis, bronchitis, pneumonia, atelectasis, bronchiectasis), infertility. A contribution was made to the search for mutations in the genes responsible for the occurrence of these conditions: new variants in the DNAH5 genes were described (nucleotide sequence variant c.5502del in exon 34 (chr5: 13841222), leading to a frameshift (NM_001369.2, p.Gln1835ArgfsTer2), nucleotide sequence variant c.10616del in exon 63 (chr5: 13753598), leading to an amino acid substitution (NM_001369.2, p.Aeg3535His, rs76458738), nucleotide sequence variant c.9897+4C>T in intron 58 (chr5: 13769065, NM_001369.2, rs1462558254); DNAH9 (nucleotide sequence variant c.3881A>G in exon 20 (chr17: 11593020), resulting in an amino acid substitution (NM_001372.3, p.Gln1294Arg)).