Autosomal recessive cutis laxa syndrome revisited
| العنوان: | Autosomal recessive cutis laxa syndrome revisited |
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| المؤلفون: | Eva Morava, Dirk J. Lefeber, Maïlys Guillard, Ron A. Wevers |
| المصدر: | European Journal of Human Genetics, 17, 1099-110 European Journal of Human Genetics, 17, 9, pp. 1099-110 |
| سنة النشر: | 2009 |
| مصطلحات موضوعية: | Genetics, Systemic disease, Mutation, Energy and redox metabolism [NCMLS 4], Glycostation disorders [IGMD 4], Biology, medicine.disease, medicine.disease_cause, Gerodermia osteodysplastica, Fibulin, medicine, biology.protein, De Barsy syndrome, Functional Neurogenomics [DCN 2], Elastin, Genetics (clinical), Wrinkly skin syndrome, Cutis laxa |
| الوصف: | Contains fulltext : 80393.pdf (Publisher’s version ) (Closed access) The clinical spectrum of the autosomal recessive cutis laxa syndromes is highly heterogeneous with respect to organ involvement and severity. One of the major diagnostic criteria is to detect abnormal elastin fibers. In several other clinically similar autosomal recessive syndromes, however, the classic histological anomalies are absent, and the definite diagnosis remains uncertain. In cutis laxa patients mutations have been demonstrated in elastin or fibulin genes, but in the majority of patients the underlying genetic etiology remains unknown. Recently, we found mutations in the ATP6V0A2 gene in families with autosomal recessive cutis laxa. This genetic defect is associated with abnormal glycosylation leading to a distinct combined disorder of the biosynthesis of N- and O-linked glycans. Interestingly, similar mutations have been found in patients with wrinkly skin syndrome, without the presence of severe skin symptoms of elastin deficiency. These findings suggest that the cutis laxa and wrinkly skin syndromes are phenotypic variants of the same disorder. Interestingly many phenotypically similar patients carry no mutations in the ATP6V0A2 gene. The variable presence of protein glycosylation abnormalities in the diverse clinical forms of the wrinkled skin-cutis laxa syndrome spectrum necessitates revisiting the diagnostic criteria to be able to offer adequate prognosis assessment and counseling. This paper aims at describing the spectrum of clinical features of the various forms of autosomal recessive cutis laxa syndromes. Based on the recently unraveled novel genetic entity we also review the genetic aspects in cutis laxa syndromes including genotype-phenotype correlations and suggest a practical diagnostic approach. |
| وصف الملف: | application/pdf |
| تدمد: | 1018-4813 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee90da14bc0aff8ac2566392f7c655a4Test https://hdl.handle.net/2066/80393Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....ee90da14bc0aff8ac2566392f7c655a4 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10184813 |
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