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Сlinical manifestations and molecular genetic characterization of heterotaxy syndrome in patients from the Republic of Belarus
https://doi.org/10.25557/2073-7998.2025.08.63-66
Abstract
Clinical manifestations of heterotaxy syndrome are described. Congenital heart defects are diagnosed in 96-100 % of cases. In most cases, this is a functionally single ventricle of the heart with atresia/stenosis of the extreme degree of the pulmonary trunk. Mutations in genes involved in the formation (functioning) of cilia were identified in the genome of probands, which allows us to classify the presented cases as ciliopathies with an autosomal recessive (CFAP300: c.198_200delinsCC homozygote, LRRCC1: c.2686dup, c.2650C>A, BBS7: c.1967_1968delinsC, c.454T>C) or sex-linked (ZIC3: c.842_843del) type of inheritance. Heterotaxy syndrome has been described for the first time as part of Bardet-Biedl syndrome.
Supporting agencies: Republican budget
About the Author
А. А. Lazarevich
State institution Republican Scientific and Practical Center «Mother and Child»
Belarus
Belarus
220053; 66, Orlovskaya st.; Minsk
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Review
For citations:
Lazarevich А.А. Сlinical manifestations and molecular genetic characterization of heterotaxy syndrome in patients from the Republic of Belarus. Medical Genetics. 2025;24(8):63-66. (In Russ.) https://doi.org/10.25557/2073-7998.2025.08.63-66
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