<abstract xmlns="http://www.w3.org/1999/xhtml">

Diastrophic dysplasia (DTD) is an uncommon pathology which falls under the group of skeletal dysplasias with its first symptoms observed from birth. The pathology is often featured by short stature and abnormally short extremities (also known as short-limbed dwarfism); the osseous structures of the body (bones and joints) are characterized through defective development in many body regions. More than 300 genes were reported to be involved in DTD etiology with autosomal recessive, autosomal dominant and X-linked manner.
We describe clinical case of a 42-year-old woman from the west of Ukraine with diastrophic dysplasia and two pathogenic variants <italic>c.1020_1022del (p.Val341del)</italic> and <italic>c.1957T>A (p.Cys653Ser)</italic> identified in <italic>SLC26A2</italic> gene.
SLC26A2-related diastrophic dysplasia<bold></bold> was confirmed<bold></bold> based on the presence of pathogenic variants in <italic>SLC26A2</italic>, which is associated with autosomal recessive forms of skeletal dysplasia, combined with phenotypic symptoms and radiographic findings.
</abstract>

Diastrophic dysplasia (DTD) is an uncommon pathology which falls under the group of skeletal dysplasias with its first symptoms observed from birth. The pathology is often featured by short stature and abnormally short extremities (also known as short-limbed dwarfism); the osseous structures of the body (bones and joints) are characterized through defective development in many body regions. More than 300 genes were reported to be involved in DTD etiology with autosomal recessive, autosomal dominant and X-linked manner.
We describe clinical case of a 42-year-old woman from the west of Ukraine with diastrophic dysplasia and two pathogenic variants c.1020_1022del (p.Val341del) and c.1957T>A (p.Cys653Ser) identified in SLC26A2 gene.
SLC26A2-related diastrophic dysplasia was confirmed based on the presence of pathogenic variants in SLC26A2, which is associated with autosomal recessive forms of skeletal dysplasia, combined with phenotypic symptoms and radiographic findings.

<italic>SLC26A2</italic> Related Diastrophic Dysplasia in 42-Years Ukrainian Women

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

 Related Diastrophic Dysplasia in 42-Years Ukrainian Women

Diastrophic dysplasia (DTD) is an uncommon pathology which falls under the group of skeletal dysplasias with its first symptoms observed from birth. The...

SLC26A2 Related Diastrophic Dysplasia in 42-Years Ukrainian Women

Article Category: CASE REPORT

Pubblicato online: 02 mag 2023

Pagine: 83 - 90

DOI: https://doi.org/10.2478/bjmg-2022-0018

Parole chiave
Diastrophic Dysplasia, mutation, Ukraine

© 2022 Bondarenko M. et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

SLC26A2 Related Diastrophic Dysplasia in 42-Years Ukrainian Women

Article Category: CASE REPORT

Pubblicato online: 02 mag 2023

Pagine: 83 - 90

DOI: https://doi.org/10.2478/bjmg-2022-0018

Parole chiaveDiastrophic Dysplasia, mutation, Ukraine

© 2022 Bondarenko M. et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Parole chiave
Diastrophic Dysplasia, mutation, Ukraine