We report the largest group of patients to date with hyperinsulinism (HI) and Beckwith-Wiedemann syndrome (BWS). Our study shows that BWS children with severe, persistent HI have a particular form of BWS caused by two copies of part of chromosome 11 inherited from the father (paternal uniparental isodisomy for chromosome 11; pUPD11p). Three-fourths of these […]
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UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN
NALCN is a voltage-independent cation channel that controls neuronal excitability. NALCN is known to interact with two other proteins, UNC79 and UNC80, which together form an active channel complex in hippocampal neurons. Thus, regulation of the UNC79-UNC80-NALCN channel complex is extremely important for controlling neuronal excitability. Our study presents a novel syndrome of hypotonia, severe […]
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome
The SOX11 gene encodes a transcription factor which regulates neuronal production during brain development. In mice, loss of SOX11 is associated with reduced brain size. In this study, Hempel et al identify deletions or de novo mutations of SOX11 in children with neurodevelopmental delay, microcephaly and dysmorphism. Some of the reported individuals had features of […]
Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families
The authors performed specific sequencing 17 known and putative breast cancer susceptibility genes in 660 women with familial breast cancer who did not carry a mutation the known susceptibility genes, BRCA1 or BRCA2. The authors then evaluated the putative cancer-related mutations and found in relevant family members to determine whether they were carried by affected […]
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
Dentists, geneticists and clinician-researchers studying tooth defects are often confronted by patients with genetic disorders that have striking dental defects such as the absence of some or several teeth, loss or defects in tooth enamel, and cleft palate among others. These defects can have a significant impact on the health and quality of life of […]
MKS1 regulates ciliary INPP5E levels in Joubert syndrome
Ciliopathies are disorders unified by shared pathophysiology and overlapping clinical phenotypes. MKS1 localizes to the base of the cilium, and MKS1 mutations are a major cause of the severe ciliopathy Meckel syndrome. We identified MKS1 mutations in nine families with the milder Joubert syndrome (JS), confirming a prior report linking MKS1 to JS. We demonstrate […]
High sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome
Somatic mosaicism arises following the occurrence of a mutation at some stage during the development of an embryo which is then propagated to only a select population of its cells. This phenomenon is being increasingly recognized as an important cause of isolated presentations of syndromes that are usually hereditary. The DICER1 syndrome is a rare […]
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
The HACE1 gene encodes a ubiquitin ligase involved in regulating several small GTPases. It has previously been proposed to be a tumour suppressor, whose function is impaired in various forms of cancer. In this study, Hollstein et al. have identified biallelic null HACE1 mutations in eight individuals from two families with an autosomal recessive syndrome […]
Zollino et al KANSL1 haploinsufficiency syndrome
Among rare diseases, the KANSL1 haploinsufficiency syndrome is one of the most common conditions. It can be caused by a small deletion on chromosome 17, removing the KANSL1 gene and other genes, or by a mutation in KANSL1. By analysing a large cohort of patients, we found that the degree of cognitive impairment is very […]
Neurogenetic evidence in the courtroom: a randomised controlled trial with German judges
Prominent court decisions and research suggest that presentation of neuro-genetic evidence may reduce the sentence of convicted psychopaths. In a mock case, we presented German judges with a hypothetical case vignette of aggravated battery and randomly assigned them to expert testimonies that either involved a neuro-genetic explanation of the offender’s psychopathy or not. We found […]