Mapping breakpoints in patients with de novo balanced chromosomal translocation (BCTs) offers a unique possibility for identification of new genes causing human monogenic disorders, even when only single patients are studied. Historically, solving the exact structure of BCTs was laborious, but with the emergence of next generation sequencing (NGS) it became possible to rapidly map […]
Latest articles
Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome of unknown etiology
Maternal uniparental disomy of chromosome 16 (UPD(16)mat) is defined as the presence of two homologous chromosomes 16 inherited from only the mother. Silver-Russell syndrome (SRS) is characterized by growth failure and dysmorphic features, and molecular etiology is unknown in some of the SRS patients. The prevalence of UPD(16)mat in etiology-unknown SRS patients and phenotypic differences […]
Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect
Hereditary lobular breast cancer is an inherited syndrome that is associated with the CDH1 germline mutations. The CDH1 gene plays a crucial role in the correct function of human cells. Loss of the encoded protein, so called E-cadherin, represents a dramatic event; in human epithelial cancers, as diffuse gastric and lobular breast tumors, this loss […]
Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment
CEACAM16 is an adhesion protein that plays a critical role in ensuring proper auditory function. Defects in this protein have been linked to dominant hearing loss through a dominant-negative mechanism. Here we report that novel splice-altering variants in CEACAM16 gene are associated with autosomal recessive nonsyndromic hearing loss. Our findings broaden the pathogenic mechanisms of […]
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG
Phosphomannomutase-2 deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation and it is associated with a recognizable facial pattern. There are no phenotype-genotype correlations neither early severity predictors. We evaluate dysmorphic features and propose a classification dividing them into major and minor with diagnostic implications. We elaborated a severity dysmorphology categorization with proven predictive […]
Cancer immunotherapy: challenges and clinical applications
Nowadays, cancer immunotherapy has emerged as one of the standard treatment modalities against cancer. It has made great progress in two areas: immune checkpoint inhibitors and chimeric antigen receptor (CAR)-modified T cells. Immune checkpoint inhibitors, including anti-PD-1 and anti-CTLA-4 mAbs, are applied to eliminate the ‘brakes’ on the immune system that can impede immune cells […]
Practice evaluation of biobank ethics and governance: current needs and future perspectives
Biobank research faces many ethical challenges, such as obtaining valid consent from donors or dealing with incidental findings. Ethicists have long been engaged in the development of ethical standards to meet these challenges. However, it is often unclear if and how these standards are applied in practice. In our study we reviewed the scientific literature […]
Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella
The article found two novel CFAP69 pathogenic variants in a cohort of 35 asthenoteratospermia with short, coiled and irregular flagella. The authors also generated Cfap69 knockout mouse and found the similar sperm flagella defects in mice. This article provide a strong evidence of the CFAP69 variants and asthenoteratospermia. These findings indicate that asthenoteratospermia with special […]
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy
Constitutional mismatch repair deficiency (CMMRD) is a very rare genetic condition conferring an extraordinarily high risk for development of cancer already during childhood and young adulthood. Patients with this cancer syndrome frequently have multiple café-au-lait spots and other signs that are indicative of a different, much more common condition, which is neurofibromatosis type 1 (NF1) […]
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations
Mutations in MME gene has previously been reported to cause autosomal recessive (AR) Charcot-Marie-Tooth disease type 2 (CMT2) and also to be associated with late-onset autosomal dominant (AD) polyneuropathies. In our cohort, we found that MME mutations co-segregated with the disease following an exclusive AR pattern of inheritance. Moreover, patients carrying heterozygous mutations in our […]