Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.
until further notice
SourceEuropean Journal of Human Genetics, 16, 1, (2008), pp. 28-35
Article / Letter to editor
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Paediatrics - OUD tm 2017
European Journal of Human Genetics
SubjectDCN 1: Perception and Action; DCN 3: Neuroinformatics; IGMD 3: Genomic disorders and inherited multi-system disorders; IGMD 4: Glycostation disorders; IGMD 8: Mitochondrial medicine; NCMLS 1: Immunity, infection and tissue repair; NCMLS 4: Energy and redox metabolism; NCMLS 6: Genetics and epigenetic pathways of disease; UMCN 3.1: Neuromuscular development and genetic disorders; UMCN 5.1: Genetic defects of metabolism
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.
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