We read with interest the nice review of Morava et al1 on the autosomal recessive cutis laxa syndromes. The authors mention the De Barsy syndrome and state that the genetic background of the De Barsy syndrome has not yet been identified. However, in the paper by Kornak et al2 on impaired glycosylation and cutis laxa caused by mutations in ATP6V0A2 (ATP6V0A2-CDG according to the novel nomenclature3, 4), one of the patients (see patient CoFe in Table 1 of Kornak et al2) shows the full clinical picture of the De Barsy syndrome, including cutis laxa, facial dysmorphy, dwarfism, psychomotor retardation, dystonia, congenital hip dysplasia, and corneal dystrophy necessitating repeated corneal transplantation. These data suggest that a subgroup of patients with De Barsy syndrome5 belongs to the spectrum of ATP6V0A2-CDG. Another cause of De Barsy syndrome has very recently been identified as mutations in PYCR1, coding for a mitochondrial enzyme involved in proline metabolism.6 Therefore, we recommend a systematic screen for ATP6V0A2-CDG and for mutations in PYCR1 in patients with De Barsy syndrome.
References
Morava E, Guillard M, Lefeber DJ, Wevers RA : Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet 2009; 17: 1099–1110.
Kornak U, Reynders E, Dimopoulou A et al: Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet 2008; 40: 32–34.
Jaeken J, Hennet T, Freeze HH, Matthijs G : On the nomenclature of congenital disorders of glycosylation (CDG). J Inherit Metab Dis 2008; 31: 669–672.
Jaeken J, Hennet T, Matthijs G, Freeze HH : CDG nomenclature: time for a change. Biochim Biophys Acta 2009; 1792: 825–826.
Kivuva EC, Parker MJ, Cohen MC, Wagner BE, Sobey G : De Barsy syndrome: a review of the phenotype. Clin Dysmorphol 2008; 17: 99–107.
Reversade B, Escande Beillard N, Dimopoulou A et al: Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet 2009; 41: 1016–1021.
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Leao-Teles, E., Quelhas, D., Vilarinho, L. et al. De Barsy syndrome and ATP6V0A2-CDG. Eur J Hum Genet 18, 526 (2010). https://doi.org/10.1038/ejhg.2009.218
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DOI: https://doi.org/10.1038/ejhg.2009.218
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