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A targeted next generation sequencing (NGS) approach analysing contemporaneously 20 different genes mainly involved in craniosynostosis was adopted to molecularly diagnose the family of a 2-years old girl affected by Saethre–Chotzen syndrome, a syndromic form of craniosynostosis. The identified pathogenic variant in the TWIST1 gene lies in a conserved residue (Arg118) that shifts from a positively charged amino acid to a non-polar amino acid and segregates in all the examined affected familial members, although with variable phenotypic expression. An accurate molecular diagnosis is of obvious value for the clinical management of individuals with isolated or syndromic craniosynostosis to define their medical needs, the recurrence risk and allow the identification of available therapeutic opportunity. Given the high number of associated genes, an NGS approach is the election choice to increase the yield of genetic diagnosis, leading to an expansion of the genotypic and phenotypic spectrum of these rare syndromes

WNK1 (With No-lysine Kinase 1), a serine-threonine kinase, regulates blood pressure by acting on various sodium transport-related ion channels. Several studies report a link between common variants of the WNK1 gene and hypertension. No data exists on Russian populations. Our aim was to evaluate the association between the WNK1 AluYb8 polymorphism and hypertension susceptibility in a Russian Caucasian population. A total of 66 patients with arterial hypertension and 40 controls were screened by polymerase chain reaction. We evaluated the genotype distribution in the patient and control groups using a chi-square test and assessed the relationship between genotypes and hypertension. This preliminary study on a small number of individuals suggests the absence of any association between the AluYb8 polymorphism and increased blood pressure. The polymorphism therefore does not increase the risk of hypertension, and in our cohort, is not a major contributor to blood pressure variability. It is therefore not useful for evaluating predisposition to hypertension, at least in the Krasnoyarsk region

Purpose: Familial adenomatous polyposis is an inherited precancerous condition characterized by multiple colorectal polyps. This brief report describes three generations of a family with a history of colorectal cancer in which genetic testing was useful for detecting individuals at risk. Methods: A next generation sequencing custom gene panel comprising 11 genes associated with familial adenomatous polyposis and colorectal cancer was used to screen the proband. Sanger sequencing was used for family segregation study. Results: Genetic testing showed that the proband, her affected sister and asymptomatic son carried the p.(Gln1338*) variant in the APC gene. Conclusion: APC genetic variations are the most frequent cause of familial adenomatous polyposis and are inherited with autosomal dominant transmission. According to the literature, the variation found in this family is associated with the condition and lies in a known mutation cluster region. Pedigree analysis suggested that the proband’s son should be included in a regular surveillance program to monitor for development of the disease and avoid more serious consequences. To our knowledge, this is the first clinical and genetic report of the condition described in an Albanian family.