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 […]
Latest articles
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 […]
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 […]