Syndromic growth retardation caused by impaired function of the ribosomal protein eL13
N. A. Makretskaya,
I. G. Vorontsova,
A. A. Buianova,
D. O. Korostin,
E. E. Petryaykina,
A. N. Tiulpakov https://doi.org/10.14341/probl13377
Abstract
Growth retardation for more than 2 SD below the average population or presumed familial target height is classified as a short stature and may be a clinical manifestation of a large number of disorders. The use of the latest methods of molecular genetic analysis in recent years has allowed for a better understanding of the pathogenesis of inherited forms of a short stature. One of the recently discovered mechanisms of this pathology was monoallelic mutations in RPL13 gene, leading to the development of Isidor-Toutain type spondyloepimetaphyseal dysplasia (SEDM). Characteristic phenotypic features for this form are normal birth length, early postnatal growth deficiency, platyspondyly, proximal femoral epiphyseal changes, coxa vara, genu varum. This study presents the clinical and radiological characteristics of the first patient in the Russian Federation with SEMD caused by a mutation in RPL13 gene.
About the Authors
N. A. Makretskaya
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Nina A. Makretskaya, MD, PhD
1 Moskvorechye street, 115522 Moscow, Russian Federation
I. G. Vorontsova
Russian Children’s Clinical Hospital
Russian Federation
Russian Federation
Inna G. Vorontsova
Moscow
A. A. Buianova
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Anastasiia A. Buianova
Moscow
D. O. Korostin
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Dmitriy O. Korostin, PhD
Moscow
E. E. Petryaykina
Russian Children’s Clinical Hospital
Russian Federation
Russian Federation
Elena E. Petryaykina, MD, PhD
Moscow
A. N. Tiulpakov
Research Centre for Medical Genetics; Russian Children’s Clinical Hospital
Russian Federation
Russian Federation
Anatoliy N. Tyulpakov, MD, PhD
Moscow
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2. Figure 2. X-ray of the right knee joint in a lateral projection. | |
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For citations:
Makretskaya N.A., Vorontsova I.G., Buianova A.A., Korostin D.O., Petryaykina E.E., Tiulpakov A.N. Syndromic growth retardation caused by impaired function of the ribosomal protein eL13. Problems of Endocrinology. 2024;70(3):93-97. (In Russ.) https://doi.org/10.14341/probl13377
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