A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in theTGFBR2 gene substantiates interindividual clinical variability |
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Authors: | A Jamsheer C Henggeler J Wierzba B Loeys A De Paepe Ch Stheneur N Badziąg K Matuszewska G Matyas A Latos-Bieleńska |
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Institution: | (1) Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama 236-0004, Japan;(2) Solution-Oriented Research for Science and Technology (SORST), JST, Kawaguchi, Japan; |
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Abstract: | We report on a 2-year-old Polish girl with typical manifestations of Loeys-Dietz syndrome (LDS), a rare genetic condition
belonging to the group of Marfan-related disorders. The characteristic LDS symptoms observed in the girl included craniofacial
dysmorphism (craniosynostosis, cleft palate, hypertelorism), arachnodactyly, camptodactyly, scoliosis, joint laxity, talipes
equinovarus, translucent and hyperelastic skin, and umbilical hernia. Mild dilatation of the ascending aorta and tortuous
course of the left internal carotid artery were recognized during her second year of life. Molecular genetic testing revealed
a heterozygous missense mutation (c.1582C>T, p.R528C) in the transforming growth factor beta receptor II gene (TGFBR2). This mutation has been previously associated with LDS in 5 unrelated cases, and was never reported in patients with other
Marfan-related disorders. Comparison of the phenotypes of our patient and these 5 individuals with c.1582C>T showed that only
the hallmark triad of the syndrome — consisting of hypertelorism, aortic root dilatation/aneurysm, and cleft palate or bifid
uvula — was present in all 6 cases. Interestingly, none of the 5 individuals who underwent psychological evaluation showed
developmental delay. The pattern of all other LDS features showed interindividual variability. Our data support the recently
reported observation that symptoms of LDS can develop at a very young age, making early diagnosis and management essential
for these patients. This is the first report on a Polish infant with typical LDS symptoms caused by aTGFBR2 mutation. |
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