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This case series presents two young patients with severe pulmonary valve regurgitation and pectus excavatum. Both patients underwent surgical repair of tetralogy of Fallot and pulmonary valvulotomy, respectively, during infancy and remained under close cardiological monitoring thereafter. After the diagnosis of severe pulmonary regurgitation was confirmed, both were referred to our center for pulmonary valve replacement. Minimally invasive pulmonary valve replacement was performed through a left anterior minithoracotomy. The swift recovery and return to daily activities observed in the presented cases suggest that minimally invasive pulmonary valve replacement through a left anterior minithoracotomy could indeed be considered the procedure of choice for patients with pectus excavatum. [ABSTRACT FROM AUTHOR]

Accurate glycosylation of proteins is essential for their function and their intracellular transport. Numerous diseases have been described, where either glycosylation or intracellular transport of proteins is impaired. Coat protein I (COPI) is involved in anterograde and retrograde transport of proteins between endoplasmic reticulum and Golgi, where glycosylation takes place, but no association of defective COPI proteins and glycosylation defects has been described so far. We identified a patient whose phenotype at a first glance was reminiscent of PGM1 deficiency, a disease that also affects N‐glycosylation of proteins. More detailed analyses revealed a different disease with a glycosylation deficiency that was only detectable during episodes of acute illness of the patient. Trio‐exome analysis revealed a de novo loss‐of‐function mutation in ARCN1, coding for the delta‐COP subunit of COPI. We hypothesize that the capacity of flow through Golgi is reduced by this defect and at high protein synthesis rates, this bottleneck also manifests as transient glycosylation deficiency. [ABSTRACT FROM AUTHOR]

We report on a 2-year-old girl with situs ambiguus comprising right-sided stomach and spleen, left-sided liver and complex cardiac defect. Psychomotor development of this patient was normal, and no other major abnormalities were present. Chromosome analysis revealed a de novo balanced chromosome translocation t(X;1)(q26;p13.1). Molecular cytogenetic investigations identified a breakpoint spanning BAC clone on the X-chromosome containing the ZIC3 gene. Mutations in ZIC3 are associated with situs ambiguus and cardiac defects predominantly in males. This is the first report of a live born girl with an X-autosome translocation involving the ZIC3 region.European Journal of Human Genetics (2006) 14, 1317–1320. doi:10.1038/sj.ejhg.5201707; published online 23 August 2006 [ABSTRACT FROM AUTHOR]