It is more and more frequent the detection of CFTR mutations for which it lacks a clear and univocal interpretation. This is particularly true for complex alleles (i.e., more mutations on the same allele). We describe genotype-phenotype correlations in a large number of Cystic Fibrosis patients, carrying different CFTR complex alleles and suggest a poorly […]
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia, and alacrima
Mutations in the TRAPPC11 gene have been linked to a diverse range of phenotypes including intellectual deficit, muscular dystrophy and movement disorders. Here we report on individuals from two unrelated Turkish families who presented with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima. Although several of these symptoms are in common with Triple A syndrome, […]
CEP78 is mutated in a distinct type of Usher syndrome
Usher syndrome is a genetic disorder featured by combined visual impairment and hearing loss. Currently, the genetic basis remains unknown in 20-30% of patients. In this article, we described the identification of CEP78 as a new gene that leads to a mild Usher syndrome featured by juvenile or adult-onset cone-rod dystrophy and sensorineural hearing loss […]
Common cancers share familial susceptibility: Implications for cancer genetics and counseling
Cancer is a genetic disease. People are anxious to know their cancer risks, if several relatives have been diagnosed with cancer. However, due to lack population level data, their questions have no scientific answers. In our study, Swedish Family-Cancer Database was used to estimate common cancer risks for individuals with many relatives affected with cancer. […]
Anxiety delivered Direct-to-Consumer: are we asking the right questions about the impacts of DTC genetic testing?
Contrarily to initial expectations about the psychological impact of Direct to Consumer genetic testing, people are substantially resilient to long-term consequences of results to genetic testing. Previous literature raised concerns on DTC focusing on anxiety levels it might cause. We claim that there are three substantial limits to be considered: non-clinical anxiety is not a […]
Carriers of a VEGFA enhancer polymorphism selectively binding CHOP/DDIT3 are predisposed to increased circulating levels of thyroid-stimulating hormone
Genetic variants (SNPs) in the vascular endothelial growth factor A (VEGFA) gene are associated with TSH levels. To characterize this association, we searched for SNPs in more than 8000 Danes. We identified rs881858 (in regulatory enhancer region of VEGFA), highly associated with human circulating TSH, which had alleles (A/G) with differential binding to CHOP (C/EBP […]
CEP78 is mutated in a distinct type of Usher syndrome
Usher syndrome is a genetic disorder featured by combined visual impairment and hearing loss. Currently, the genetic basis remains unknown in 20-30% of patients. In this article, we described the identification of CEP78 as a new gene that leads to a mild Usher syndrome featured by juvenile or adult-onset cone-rod dystrophy and sensorineural hearing loss […]
Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders
Establishment of a comprehensive diagnostic system for patients with inherited myopathies is challenging because of their genetic heterogeneity. In this paper, we introduced our genetic diagnostic system using four target gene panels, each covering all exonic and flanking regions of genes associated with 1) muscular dystrophy, 2) congenital myopathy/congenital myasthenic syndrome, 3) metabolic myopathy, and […]
KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability
The human cell functions are highly dependent on the regulated movement of ions across the cell membrane, which is carried out by proteins called ion channels. One subset of ion channels regulates the movement of potassium, especially in excitable tissues like that of the brain. In this report, we describe a genetic change in the […]
Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO
Changes in an X chromosome gene called NONO have been shown to cause delayed development and intellectual disability in males. In this article we describe three males with changes in NONO who have the delayed development and intellectual disability previously described but also have heart defects and/or abnormal heart muscles. This suggest that changes in […]