Document Detail


Autosomal recessive cutis laxa syndrome revisited.
MedLine Citation:
PMID:  19401719     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Eva Morava; Maïlys Guillard; Dirk J Lefeber; Ron A Wevers
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Publication Detail:
Type:  Journal Article; Review     Date:  2009-04-29
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  17     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2009 Sep 
Date Detail:
Created Date:  2009-08-20     Completed Date:  2010-01-13     Revised Date:  2013-06-02    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  1099-110     Citation Subset:  IM    
Affiliation:
Department of Paediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. E.Morava@cukz.umcn.nl
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MeSH Terms
Descriptor/Qualifier:
Cutis Laxa / classification,  genetics*,  pathology*
Genes, Recessive*
Glycosylation
Humans
Mutation
Prognosis
Proton-Translocating ATPases / genetics
Skin / metabolism,  pathology,  physiopathology
Skin Aging
Syndrome
Chemical
Reg. No./Substance:
EC 3.6.3.14/ATP6V0A2 protein, human; EC 3.6.3.14/Proton-Translocating ATPases
Comments/Corrections
Comment In:
Eur J Hum Genet. 2010 May;18(5):526; author reply 526   [PMID:  20010974 ]
Eur J Hum Genet. 2009 Sep;17(9):1097-8   [PMID:  19401717 ]

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