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Clinical and genetic characteristics and orthopedic manifestations of the Saul–Wilson syndrome in two Russian patients
- Authors: Markova T.V.1, Kenis V.M.2, Melchenko E.V.3, Demina N.A.1, Gundorova P.1, Nagornova T.S.1, Dadali E.L.1
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Affiliations:
- Research Centre for Medical Genetics
- The Turner Scientific Research Institute for Children’s Orthopedics
- H. Turner National Medical Research Centre for Children’s Orthopedics and Trauma Surgery
- Issue: Vol 8, No 4 (2020)
- Pages: 451-460
- Section: Сase report
- URL: https://journals.eco-vector.com/turner/article/view/33826
- DOI: https://doi.org/10.17816/PTORS33826
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Abstract
Background. Saul–Wilson syndrome (SWS, microcephalic osteodysplastic dysplasia) is a rare genetic variant of skeletal dysplasia and is determined based on the modern classification for “thin bone dysplasias.” To date, 16 patients with SWS from different countries have been identified.
Clinical cases. We presented the first description of the clinical and genetic characteristics of two Russian patients with SWS and compared them with published data. The main clinical manifestations of SWS are characterized by a combination of nanism and pathology of long tubular bones, spine, and eyes. Changes in the phenotype of patients in different age groups were analyzed.
Discussion. In the analysis of the clinical manifestations of the observed patients and patients described in the literature, typical dysmorphic features of the face and radiographic data help in the diagnosis of SWS upon clinical examination. In the majority of the described patients, the nucleotide substitution c.1546G>A is the major mutation in the gene responsible for SWS, which leads to the replacement of the amino acid Gly516Arg in the protein molecule.
Conclusion. Based on the identified specific features of the phenotype of patients with SWS and the presence of a major mutation in the COG4 gene, a priority analysis of gene mutations is necessary. Orthopedic manifestations of SWS can lead to life-threatening conditions (cervical spine instability) and motor limitations (progressive osteoarthritis) and thus should be monitored dynamically.
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About the authors
Tatyana V. Markova
Research Centre for Medical Genetics
Author for correspondence.
Email: markova@med-gen.ru
ORCID iD: 0000-0002-2672-6294
MD, PhD, clinical geneticist, Diagnostic Сentre. Research Centre for Medical Genetics
Russian Federation, MoscowVladimir M. Kenis
The Turner Scientific Research Institute for Children’s Orthopedics
Email: kenis@mail.ru
ORCID iD: 0000-0002-7651-8485
SPIN-code: 5597-8832
Scopus Author ID: 341189
http://www.rosturner.ru/kl4.htm
MD, PhD, D.Sc., Deputy Director for Development and International Relations, Head of the Department of Foot Pathology, Neuroorthopedics and Systemic Diseases
Russian Federation, Saint-PetersburgEvgenii V. Melchenko
H. Turner National Medical Research Centre for Children’s Orthopedics and Trauma Surgery
Email: emelchenko@gmail.com
MD, PhD, orthopedic surgeon, Research Associate, Department of Foot Pathology, Neuroorthopedics and Systemic Diseases
Russian Federation, Saint PetersburgNina A. Demina
Research Centre for Medical Genetics
Email: ndemina47@mail.ru
ORCID iD: 0000-0003-0724-9004
MD, clinical geneticist, Honored Physician of Russia
Russian Federation, МоскваPolina Gundorova
Research Centre for Medical Genetics
Email: markova@med-gen.ru
ORCID iD: 0000-0001-8703-7997
PhD in Biology, Senior Research Associate, Laboratory of DNA Diagnostics
Russian Federation, MoscowTatyana S. Nagornova
Research Centre for Medical Genetics
Email: t.korotkaya90@gmail.com
ORCID iD: 0000-0003-4527-4518
MD, clinical geneticist, Laboratory of Selective Screening
Russian Federation, MoscowElena L. Dadali
Research Centre for Medical Genetics
Email: markova@med-gen.ru
MD, PhD, DSci, Professor, Head of Department of Diagnostics
Russian Federation, MoscowReferences
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