Abstract
For the first time in Azerbaijan Republic, we carried out medical genetic consultation of affected children suspicious of lysosomal storage diseases, and particularly with mucopolysaccharidoses. Patients were from the cities of Baku, Gyandzhe and other areas of the Republic. Consultations were done by doctors: pediatrician and geneticist. As to clinical manifestations, 19 index patients and 54 members in their families: Hurler syndrome (1 patient), Hunter syndrome (5 patients), Morquio syndrome (13 patients). NGS (Next Generation Sequencing) technique was used for molecular genetic diagnostics. In index patient suspicious with Hurler syndrome (MPS I) mutation of alpha-L-iduronidase (IDUA) (NP_000194,2: c.1882C>T, p.Arg628Ter) was identified in homozygous state. Among patients with clinical manifestations of Hunter syndrome (MPS II) three mutations iduronate-2-sulfatase (IDS) gene: 1106C>G (p.Asp358Leu), c.322T>G (p.Asp358Leu) and c.1215del (p.Leu*34406Phefs) were identified in hemizygous state. In patients with Morquio syndrome (MPS IVA) 9 mutations of N-acetylgalactosamine-6-sulfatase (GALBS) gene and one mutation beta-galactosidase (GLB1) c.176G-A (p.Arg59His) Morquio syndrome (MPS IVB) were identified. Nine mutations are as follows: c.1144C>G (p.Leu382Val), c.1265A>G (p.Gln422Arg), c.463G>T (p.Gly155Cys), c.1018 G>T (p.Gly340Cys). c.157G>A (p.Gly53Arg), c.553C>T (p.Pro185Ser), c.443A>G (p.His148Arg), c.1283A>G (p.Gln428Arg), c.439T>A (p.Trp147Arg). When examining affected children family members, 41 people with heterozygous carriage of GALNS gene were identified: MPS III, MPS II-12, MPS IVA-26, relatively. In one sibling of the index patient with Morquio syndrome (MPS IVA) c.463G>T (p.Gly155Cys) mutation was found in homozygous state. Obtained experimental results allow doctors to direct patients to proper treatment as well as prophylactic activities with families including fetus prenatal diagnostics in next pregnancies.
Published Version
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call