Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing.

Purpose: With this study, we aimed to explore the gene-disease relationship (GDR) evidence for 109 gene-disease pairs and the significance of a large Biodatabank for this classification.

Methods: The Clinical Genome Resource (ClinGen) Clinical Validity Framework for evaluation of GDR was applied. Most of the assessed genes were without a phenotype entry in the Online Mendelian Inheritance in Man (OMIM) database.

[Compound heterozygosis with novel AQP2 gene mutation in sisters affected by autosomal congenital nephrogenic diabetes insipidus].

Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder, mostly caused by antidiuretic hormone receptor type 2 (ADHR2) gene mutations, which are inherited as X-linked traits. Less than 10% of cases are due to mutations in the aquaporin-2 (AQP2) gene, inherited in autosomal recessive or dominant manner. We report the case of two adult sisters, of 30 and 27 years of age, diagnosed in early infancy with X-linked CNDI.

A novel variant causative of pseudoxanthoma elasticum.

Pseudoxanthoma elasticum is an autosomal recessive heritable disorder caused by mutations in . We describe two siblings showing typical skin lesions and a clinical diagnosis of pseudoxanthoma elasticum. Genetic analysis of revealed a novel homozygous c.

Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients.

Background Prader-Willi syndrome (PWS) is a genetic disorder due to loss of expression of paternally transcribed genes of the imprinted region of chromosome 15q11-13. PWS is characterized by peculiar signs and symptoms and many endocrine abnormalities have been described (growth hormone deficiency, hypogonadotropic hypogonadism). The abnormalities of thyroid function are discussed in literature and published data are discordant.

Growth rate and myofibroblast differentiation of desmoid fibroblast-like cells are modulated by TGF-β signaling.

Desmoid-like fibromatosis (DF) is a rare myofibroblastic benign tumor, often associated with local and repeated injuries, spontaneous regression and stabilization of disease progression suggesting the involvement of altered Wnt/β-catenin signaling activation and/or aberrant response of the DF cells to external environmental stimuli. The aim of this study was to investigate the response of DF cells to microenvironmental factors such as inflammatory and growth factors or hormones. We observed that the inflammatory cytokine, transforming growth factor-β (TGF-β1) stimulated cell growth and myofibroblast differentiation of DF cells regardless of the presence of a β-catenin mutation.