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 […]
Latest articles
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 […]
Survival and causes of death in patients with von Hippel-Lindau disease
von Hippel-Lindau disease (vHL) is a hereditary tumor predisposition causing life-long risk of tumor development in multiple organs. In a national research project including all known vHL families in Denmark, we found that the survival of vHL patients has improved over the last 100 years, and is getting closer to that of their siblings without […]
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations
Amelogenesis Imperfecta (AI) is a genetic condition characterized by tooth enamel quantitative or qualitative defects. The defects affect the enamel appearance, which can be chalky, discolored, thinner, pitted or grooved. Usually, a combination of different defects can be found within the same patient. In the last decade, studies have shown that AI may be associated […]
Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies
The gene POLR3B is associated with 4H leukodystrophy, a syndrome that includes reproductive failure (in the form of idiopathic hypogonadotropic hypogonadism (IHH)), neurologic disease (often in the form of ataxia), and hypodontia. To date, most patients reported to carry biallelic variants in POLR3B begin to show neurologic symptoms in early childhood, often before they are […]
New insights in the molecular signature of advanced medullary thyroid cancer: evidence of a bad outcome of cases with double RET mutations
Advanced sporadic MTC are characterized by a high prevalence of RET somatic mutations. In particular the M918T is the most frequent mutation but also small deletions/insertions (complex mutations can be present. In some cases more than one RET mutation can occur. K- or H-RAS mutations are also present even if at a lower frequency. RET […]
Reader’s letter: comments on “Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells”
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells C Angelozzi, F Borgo, F D Tiziano, A Martella, G Neri, C Brahe J Med Genet 2008; 45: 29-31 eLetter ID: jmedgenet_el;2828 Article ID: 45/1/29 Article Date: 1 January 2008 http://jmg.bmj.com/content/early/2007/10/11/jmg.2007.051177 I just read the articles on SMA1, SMA2, SMA3. I felt it important to tell […]
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
Recessive mutations in the RMND1 gene, encoding the Required for Meiotic Nuclear Division protein 1, can cause defects in mitochondrial translation and oxidative phosphorylation, resulting in multi-system mitochondrial disease. In this multi-centre international study, we identified 14 new cases from 11 pedigrees with recessive RMND1 mutations including six novel, pathogenic variants. Hypotonia, developmental delay, congenital […]
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
Pathogenic variants in the X-linked KIAA2022 gene are known to cause severe intellectual disability in males. Until now, all reported related female carriers of these KIAA2022 disruptions were unaffected and only 3 affected female patients have been described so far. We now report 14 female patients with heterozygous de novo loss of function mutations of […]
Specifying the ovarian cancer risk threshold of ‘premenopausal risk-reducing salpingo-oophorectomy’ for ovarian cancer prevention: a cost-effectiveness analysis
Risk-reducing surgery to prevent ovarian cancer involves removal of tubes and ovaries. This has traditionally been performed in women at high risk (>1-in-10 chance) of getting ovarian cancer (e.g. BRCA1/BRCA2 carriers). However, the ovarian cancer risk level at which surgical prevention should be offered has not been previously defined. We undertook a health economic analysis […]