Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation
| العنوان: | Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation |
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| المؤلفون: | J. van Reeuwijk, L. De Meirleir, J Ranells, G Gillessen Kaesbach, Maciej Adamowicz, Emmanuelle Lemyre, I Salafsky, Jolanta Sykut-Cegielska, Eva Morava, Han G. Brunner, Peter Meinecke, Zsolt Urban, Ron A. Wevers, Dirk J. Lefeber |
| المساهمون: | Pediatrics |
| المصدر: | European Journal of Human Genetics, 16, 1, pp. 28-35 European Journal of Human Genetics, 16, 28-35 |
| بيانات النشر: | Nature Publishing Group, 2008. |
| سنة النشر: | 2008 |
| مصطلحات موضوعية: | Male, Systemic disease, medicine.medical_specialty, Pathology, cutis laxa syndrome, Glycosylation, Energy and redox metabolism [NCMLS 4], Genetics and epigenetic pathways of disease [NCMLS 6], Hearing loss, Central nervous system, Genes, Recessive, Biology, Neuroinformatics [DCN 3], Cutis Laxa, Genomic disorders and inherited multi-system disorders [IGMD 3], Internal medicine, Genetics, medicine, Perception and Action [DCN 1], Humans, Abnormalities, Multiple, isoelectric focusing, Child, Genetics (clinical), Genetic heterogeneity, Infant, Syndrome, Glycostation disorders [IGMD 4], medicine.disease, Phenotype, Neuromuscular development and genetic disorders [UMCN 3.1], Pedigree, Endocrinology, medicine.anatomical_structure, Palpebral fissure, Mitochondrial medicine [IGMD 8], Genetic defects of metabolism [UMCN 5.1], Child, Preschool, Female, glycosylation defect, medicine.symptom, Congenital disorder of glycosylation, Metabolism, Inborn Errors, Cutis laxa, Immunity, infection and tissue repair [NCMLS 1] |
| الوصف: | Contains fulltext : 69660.pdf (Publisher’s version ) (Closed access) Autosomal recessive cutis laxa is a genetically heterogeneous condition. Its molecular basis is largely unknown. Recently, a combined disorder of N- and O-linked glycosylation was described in children with congenital cutis laxa in association with severe central nervous system involvement, brain migration defects, seizures and hearing loss. We report on seven additional patients with similar clinical features in combination with congenital disorder of glycosylation type IIx. On the basis of phenotype in 10 patients, we define an autosomal recessive cutis laxa syndrome. The patients have a complex phenotype of neonatal cutis laxa, transient feeding intolerance, late closure of the fontanel, characteristic facial features including down-slanting palpebral fissures, short nose and small mouth, and developmental delay. There is a variable degree of the central nervous system involvement and variable systemic presentation. The biochemical analysis using transferrin isoelectric focusing gives false negative results in some of the youngest patients. Analysis of the apolipoprotein C-III isoelectric focusing, however, is diagnostic in all cases. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1018-4813 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f54df43fb286e2c958ad3929c16252d9Test https://hdl.handle.net/20.500.14017/77a97e3e-58b3-4672-8827-9b29485f396eTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....f54df43fb286e2c958ad3929c16252d9 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10184813 |
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