PRAGUE MEDICAL REPORT
PRAGUE MEDICAL REPORT
Prague Medical Report is an English quarterly published multidisciplinary biomedical journal. Prague Medical Report was founded as Sborník lékařský in May 1885. The journal presents public primary scientific publications, short communications, casuistry, and reviews. It contains articles based on important specialised lectures and symposia.

PRAGUE MEDICAL REPORT, Vol 118 No 2 (2017), 87–94

Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families

Karel Medek, Jiří Zeman, Tomáš Honzík, Hana Hansíková, Štěpánka Švecová, Kamila Beránková, Vendula Kučerová Vidrová, Miloslav Kuklík, Jiří Chomiak, Markéta Tesařová

DOI: https://doi.org/10.14712/23362936.2017.8
published online: 19. 09. 2017

abstract

Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently, mutations in EXT1 and EXT2 genes with autosomal dominant inheritance are responsible for HME. In our group of 9 families with HME we evaluated the clinical course of the disease and analysed molecular background using Sanger sequencing and MLPA in EXT1 and EXT2 genes. The mean age in our group of patients, when the first exostosis was recognised was 4.5 years (range 2–10 years) and the number of exostoses per one patient documented on X-ray ranged from 2 to 54. Most of the exostoses developed before the growth was completed and they were dominantly localised in the distal femurs, proximal tibia, proximal humerus and distal radius. In all patients, at least one to 8 surgeries were necessary due to complaints and local complications, but neither patient developed malignant transformation. In half of the patients, the disease resulted in short stature. DNA analyses were positive in 7 families. In five probands, different EXT1 gene mutations resulting in premature stop-codon (p.Gly124Argfs*65, p.Leu191*, p.Trp364Lysfs*11, p.Val371Glyfs*10, p.Leu490Profs*31) were found. In two probands, nonsense mutations were found in EXT2 gene (p.Val187Profs*115, p.Cys319fs*46). Five mutations have been novel and two mutations have occurred de novo in probands. Although the risk for malignant transformation is usually low, especially in patients with low number of exostoses, early diagnostics and longitudinal follow up of patients is of a big importance, because early surgery can prevent progression of secondary bone deformities.

keywords: Multiple exostoses; EXT1; EXT2

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Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families is licensed under a Creative Commons Attribution 4.0 International License.

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ISSN: 1214-6994
E-ISSN: 2336-2936

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