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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DISCUSSION
Skeletal dysplasias belong to a genetically heterogeneous
group of dysplasias, which may be caused by
different mutations in more than 300 genes [19]. The main phenotypic presentation for those are growth disorders.
The diagnosis of diastrophic dysplasia implies the conjunction
of clinical, radiological, and histopathological symptoms.
Establishing an accurate diagnosis is a complicated
task, and the results of genetic testing play a key role here.
In the presented case, the 42-year-old woman
was found to have SLC26A2 mutations 1020_1022del
(p.Val341del) and c.1957T> A (p.Cys653Ser). The SLC26A2
c. 1957T> A (p.Cys653Ser) pathogenic variant is
the third prevalent one among the described in DTD patients.
The SLC26A2 gene is considered to be related to autosomal
recessive achondrogenesis, type IB (ACG1B), atelosteogenesis
type 2(AO2), diastrophic dysplasia (DTD),
and multiple epiphyseal dysplasia 4 (EDM4). If two causative
variants are present on opposite chromosomes, then
it is consistent with a diagnosis of SLC26A2-related conditions.
SLC26A2-related conditions fall under the spectrum
of skeletal dysplasias demonstrating a variable manifestation
rate. ACG1B and AO2 (also known as De la Chapelle
dysplasia) involve significant shortening of extremities and
compromised skeletal ossification, and these are typically
lethal in the perinatal period. DTD can be lethal in infancy;
EDM4 is the mildest SLC26A2-associated disorder and is
characterized by clubfoot, double-layered patellae, flat
epiphyses, mild feet and hands deformations, and joint
pain. This condition causes recessive multiple epiphyseal
dysplasia (rMED) in the presence of homozygous carrier
or rMED and DTD when in combination with other morbigenous
variants [17].
The parents of the patient are not available to identify
the trans- or cis- position of two pathogenic variants on
the chromosome. Two healthy descendants of our proband
are healthy heterozygous carriers, confirming the location
of the SLC26A2 variants on different chromosomes. We
have seen no evidence of an excessive probability of degenerative
joint disease. We have advised on examination
of their partners in future to prevent the DTD in offspring.
Nutritional counseling to prevent obesity is important
for such patients, as well as a multidisciplinary approach
to their management [15, 16].
Future study shows the need to clarify the significance
of different types of DTD among patients of Ukrainian
origin with skeletal dysplasia symptoms and to estimate
heterozygous carrier rates in the population. The results
of the genetic testing and evaluating of the DTD-involved
gene could be important for the selection of management
and new treatment development.
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