Journal of Applied Genetics

, Volume 50, Issue 4, pp 405–410

A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in theTGFBR2 gene substantiates interindividual clinical variability

Authors

    • Center for Medical Genetics in Poznań
    • Department of Medical GeneticsUniversity of Medical Sciences in Poznań
  • C. Henggeler
    • Division of Medical Molecular Genetics and Gene DiagnosticsUniversity of Zurich, Institute of Medical Genetics
  • J. Wierzba
    • Department of General Nursery and Department of Pediatrics, Hematology, Oncology and EndocrinologyMedical University of Gdańsk
  • B. Loeys
    • Center for Medical GeneticsGhent University Hospital
  • A. De Paepe
    • Center for Medical GeneticsGhent University Hospital
  • Ch. Stheneur
    • AP-HP, Hôpital Ambroise ParéService de Pédiatrie
    • AP-HP, Hôpital BichatConsultation multidisciplinaire Marfan
  • N. Badziąg
    • Department of Medical GeneticsUniversity of Medical Sciences in Poznań
  • K. Matuszewska
    • Department of Medical GeneticsUniversity of Medical Sciences in Poznań
  • G. Matyas
    • Division of Medical Molecular Genetics and Gene DiagnosticsUniversity of Zurich, Institute of Medical Genetics
  • A. Latos-Bieleńska
    • Center for Medical Genetics in Poznań
    • Department of Medical GeneticsUniversity of Medical Sciences in Poznań
Case Report

DOI: 10.1007/BF03195701

Cite this article as:
Jamsheer, A., Henggeler, C., Wierzba, J. et al. J Appl Genet (2009) 50: 405. doi:10.1007/BF03195701
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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.

Keywords

Loeys-Dietz syndromemarfanoid habitusMarfan-related disorderTGFBR1TGFBR2missense mutationarterial tortuosity
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Copyright information

© Institute of Plant Genetics, Polish Academy of Sciences, Poznan 2009