Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome |
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| Institution: | 1. Clinical Genetics Department, Nottingham University Hospitals NHS Trust, Nottingham, UK;2. Clinical Genetics Department, Birmingham Women''s Hospital, Birmingham, UK;3. Exeter Molecular Genetics Laboratory, Exeter, UK;4. Peninsula Medical School, Faculty of Health, University of Plymouth, UK;1. Hacettepe University Faculty of Medicine, Department of Pediatric Genetics, Ankara, Turkey;2. Hacettepe University Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey;3. Hacettepe University Faculty of Medicine, Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Ankara, Turkey;4. Hacettepe University Faculty of Medicine, Department of Pediatrics, Division Pediatric and Perinatal Pathology, Ankara, Turkey;1. Department of Neurology, Ghent University Hospital, Corneel Heymanslaan 10, 9000, Ghent, Belgium;2. Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Corneel Heymanslaan 10, 9000, Ghent, Belgium;3. Center for Medical Genetics, Ghent University Hospital, Corneel Heymanslaan 10, 9000, Ghent, Belgium;1. Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran;2. Department of Pediatric and Endocrinology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran;3. Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran;4. Metabolic Syndrome Research Center, Mashhad University of Medical Sciences, Mashhad, Iran;1. Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan;2. Department of Pediatrics, Juntendo University Faculty of Medicine, Tokyo, Japan;3. Department of Maxillofacial Orthognathics, Tokyo Medical and Dental University, Tokyo, Japan;4. Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan;5. Department of Medical Genetics, Tokyo Medical and Dental University, Tokyo, Japan;1. Pediatric Neurology and Muscular Diseases Unit, IRCCS \"G. Gaslini\" Institute, Genova, Italy;2. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Genova, Italy;3. Division of Medical Genetics, Department of Specialized Medicine, Montreal Children''s Hospital, McGill University Health Centre (MUHC), Montreal, QC, H4A 3J1, Canada;4. Department of Human Genetics, McGill University, Montreal, QC, Canada;5. UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, University of Genoa, 16147, Genoa, Italy;6. Neuroradiology Unit IRCCS, Istituto Giannina Gaslini, Genoa, Italy |
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| Abstract: | Traboulsi syndrome, otherwise known as facial dysmorphism, lens dislocation, anterior-segment abnormalities and spontaneous filtering blebs, is an autosomal recessive condition associated with characteristic ocular features including dislocated crystalline lenses, anterior segment abnormalities and in some individuals, non-traumatic conjunctival cysts. There is a distinctive facial appearance which includes flattened malar region with convex nasal ridge. Alterations in the aspartate beta-hydroxylase (ASPH) gene are known to be the cause of the condition.We report seven further individuals from six unrelated families with characteristic ocular and facial features. Five individuals had aortic root dilatation, with childhood onset in some, and one undergoing aortic root repair aged 47 years for severe aortic regurgitation and aortic root dilatation. Interestingly, inguinal hernias were commonly reported. Although some skeletal features were seen, these were not consistent. One of the patients had mild deficiency of factor VII on clotting studies. The ASPH protein hydroxylates specific asparagine- and aspartate-residues in epidermal growth factor (EGF)-domain containing proteins including coagulation factors and associated genes including FBN1. We propose this as an explanation for the overlap in clinical features with Marfan syndrome and conclude that Traboulsi syndrome is an important differential diagnosis. We strongly recommend echocardiography surveillance for patients with Traboulsi syndrome. |
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| Keywords: | Traboulsi syndrome Facial dysmorphism Lens dislocation Aortic dilatation ASPH Marfan syndrome |
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