SLC26A2 RELATED DIASTROPHIC DYSPLASIA
IN 42-YEARS UKRAINIAN WOMEN
Bondarenko M.1, Haiboniuk I.2,3, Solovei I.4, Shargorodska Y.2, Makukh H.2, 3*
*Corresponding Author: *Corresponding Author: Makukh Halyna, Ph.D., 31-A Lysenko Institute of Hereditary Pathology of
the Ukrainian National Academy of Medical Sciences, Lviv, Ukraine, & Scientific Medical Genetic
Center LeoGENE, Maksymovych, 7g str, Lviv, Ukraine, 79059. Tel +380677191380,
E-mail: mgdc@leogene.com.ua
page: 83
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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.
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