Steinmann
Fakultäten » Medizinische Fakultät » Kinderspital Zürich: Medizinische Klinik » Stoffwechsel und Molekulare Pädiatrie, Abteilung für » Prof. Dr. Beat Steinmann (emeritiert) » Steinmann
Completed research project
| Title / Titel | THE NEVO SYNDROME IS ALLELIC TO THE KYPHOSCOLIOTIC TYPE OF THE EHLERS-DANLOS SYDROME (EDS VIA) | ||||
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| Abstract (PDF, 14 KB) | |||||
| Summary / Zusammenfassung | We have seven patients affected with Nevo syndrome, a rare, autosomal recessive disorder characterized by increased perinatal length, kyphosis, muscular hypotonia, and joint laxity. Since its first description in 1974 by Nevo et al., only a few cases have been reported. Because some of these patients present clinical features similar to those of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA), an inherited connective tissue disorder characterized by a deficiency of lysyl hydroxylase due to mutations in PLOD1, we studied seven patients with Nevo syndrome, three of whom have previously been reported, and four of whom are new. In the five patients from whom urine was available, the ratio of total urinary lysyl pyridinoline to hydroxylysyl pyridinoline was elevated (8.2, 7.8, 8.6, 3.5, and 4.8, respectively) compared with that in controls (0.20 ± 0.05, range 0.10-0.38), and similar to that observed in patients with EDS VIA (5.97 ± 0.99, range 4.3-8.1). Six patients were homozygous for a point mutation in exon 9 of PLOD1 causing a p.R319X nonsense mutation, while one patient was homozygous for a large deletion comprising exon 17 of PLOD1. We conclude that the Nevo syndrome is allelic to and clinically indistinguishable from EDS VIA, and present evidence that increased length at birth and wristdrop, in addition to muscular hypotonia and kyphoscoliosis, should prompt the physician to consider EDS VIA earlier than heretofore. Weitere Informationen |
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| Publications / Publikationen | Giunta C, Randolph A, Al-Gazali LI, Brunner HG, Kraenzlin ME, Steinmann B: Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). Am J Med Genet 133A:158-164, 2005Steinmann B., Superti-Furga A.: Genetische Bindegewebskrankheiten. In: Pädiatrie, Grundlagen und Praxis, 3. Auflage, (Eds. M.J. Lentze, J. Schaub, F.J. Schulte, J. Spranger). Springer Berlin, pp. 1645-1654, 2007Steinmann et al. unpublished resultsWeitere Informationen | ||||
| Keywords / Suchbegriffe | Nevo syndrome; kyphoscoliosis; EDS VIA; lysyl hydroxylase; PLOD1; pyridinolines; allelic | ||||
| Project leadership and contacts / Projektleitung und Kontakte |
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| Funding source(s) / Unterstützt durch |
SNF (Personen- und Projektförderung), Foundation |
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| In collaboration with / In Zusammenarbeit mit |
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| Duration of Project / Projektdauer | Jun 2002 to Dec 2010 |