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However, most patients that have been described in the literature with ARCS had severe failure to thrive and died in the first 6 months of life. ARCS is compatible with the symptomatology presented by the studied patients. p.(Ile383Asn), and patient 3 was compound heterozygous for the same c.1148T>A. Whole exome sequencing analysis identified VPS33B variants in all patients: patients 1 and 2 presented a novel homozygous variant at position c.1148T>A. We studied three patients with cholestasis, increased aminotransferases, normal gamma-glutamyl transferase, and developmental and language delay. Additional features include ichthyosis, central nervous system malformations, platelet dysfunction, and severe failure to thrive. The classical presentation includes congenital joint contractures, renal tubular dysfunction, cholestasis, and early death. The arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is an autosomal recessive multisystem disease caused by variants in VPS33B or VIPAS39. Until now, patients with congenital nephrotic syndrome associated with primary adrenal insufficiency have been treated as having two different diseases however, the treatment for patients with NPHS14 should be unique, possibly targeting the sphingolipid metabolism. The discovery of this syndrome may contribute to the diagnosis and description of additional patients who could benefit from treatment, genetic counseling and screening for related comorbidities. We reviewed the reported cases and concluded that NPHS14 is a clinically recognizable syndrome. Her brother died previously with the same phenotype and hyperpigmentation of the skin. In this report we have performed whole-exome sequencing and identified a new homozygous variant in SGPL1, p.Arg340Trp, in a girl with nephrotic syndrome and Addison's disease. Most recently, three groups found concurrently the underlying genetic defect in the gene sphingosine-1-phosphate lyase 1 (SGPL1) and called the disease nephrotic syndrome type 14 (NPHS14). Little is known about the molecular pathogenesis of congenital nephrotic syndrome in association with primary adrenal insufficiency. Our results demonstrated the utility of exome sequencing to perform diagnosis in PD cases with mild phenotype. Hence, we conclude that the maternal p.(Leu192Pro) variant was likely causally associated with the proband´s disease, together with the known pathogenic paternal variant p.(Tyr231del). On the other hand, the p.(Leu192Pro) variant led to significant protein destabilization. A high-resolution X-ray structure could only be obtained for the p.(Arg470His) variant, which showed no significant structural differences in comparison to WT prolidase. In order to study the effects of the other two prolidase variants, we performed site directed mutagenesis purification and crystallization studies.

The variant p.(Tyr231del) has been previously characterized by high-resolution X-ray structure analysis as altering protein dynamics/flexibility. Whole exome sequencing analysis revealed three PEPD variants: c.575T>C p.(Leu192Pro) inherited from the mother, and c.692_694del p.(Tyr231del) and c.1409G>A p.(Arg470His), both inherited from the father. In this study, we describe a 16-year-old boy with a mild PD phenotype comprising chronic eczema, recurrent infections and elevated IgE.

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PD clinical features vary among affected individuals: skin ulcerations, recurrent infections, and developmental delay are common. Prolidase Deficiency (PD) is an autosomal recessive rare disorder caused by loss or reduction of prolidase enzymatic activity due to variants in the PEPD gene.

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The source code is available under the MIT license from.

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The software is implemented in C++ and compiles and runs on Linux and MacOS. Thus, EZTraits is designed to support rapid genetic analysis and hypothesis-testing by researchers, regardless of programming experience or technical background. Alternatively, EZTraits can parse simple and intuitive text including concepts like ’any’ or ’all’. These rules can be defined directly in the scripting language Lua, for genotype calls using variant ID (RS number) or chromosomal position. We have developed EZTraits as a tool to quickly evaluate genotype data against a set of rules defined by the user.

With a continually increasing set of variants with published clinical disease or biomarker associations, an easy-to-use tool for non-programmers to rapidly screen VCF files for risk alleles is needed. The vast majority of human traits, including many disease phenotypes, are affected by alleles at numerous genomic loci.

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