Mitochondria, “the powerhouses of the cells” are dynamic organelles which undergo continuous fission and fusion to maintain their diverse cellular functions. Mitochondrial fission factor MFF is a component of the fission machinery shared between mitochondria and peroxisomes. We for the first time present detailed clinical and functional data of three patients with loss of function […]
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Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects
Laminins are proteins that form a major component of basement membranes and extracellular matrix in human tissues. We have performed clinical and neuropsychiatric evaluation, and molecular analysis in patients with mutations in the LAMA1 gene that codes for the protein laminin-α1. We investigated the consequence of mutations in LAMA1 using nerve cells derived from stem […]
A Genetic Region Associated with Seizure Susceptibility is Identified in Wolf-Hischhorn Syndrome
Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving variable size deletions of the short arm of chromosome 4. Approximately 90% of individuals with WHS have seizures. These seizures can be intractable and can seriously affect an individual’s quality of life, especially during childhood. To study the genetic correlates of seizure susceptibility in […]
Identification of novel genetic causes of Rett syndrome-like phenotypes
Rett syndrome (RTT) is a severe neurodevelopmental disorder. We investigated a group of 19 MECP2 and CDKL5 negative RTT-like patients. Pathogenic genomic imbalances were found in two patients: a 18q21.2 deletion encompassing TCF4 and a mosaic uniparental disomy of chromosome 3. Very likely pathogenic sequence variants were identified through exome sequencing in genes previously implicated […]
Current needs for human and medical genomics research infrastructure in low and middle income countries
Researchers from Colombia, China, India, Mexico, South Africa, Australia, United States and Canada address “Current Needs for Human and Medical Genomics Research Infrastructure in Low and Middle Income Countries”. Due to the high costs of the needed research infrastructure, a large number of the human genomic centers around the globe are located in developed countries. […]
KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects
Mutations in the potassium channel subunit gene KCNT1 have been identified during the past three years in patients with neurological disorders including nocturnal frontal lobe epilepsy, epileptic encephalopathies and white matter diseases. KCNT1 mutations have also been linked to cardiac arrhythmias. In this review we describe the current knowledge of the KCNT1 gene and its […]
Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia
Primary ciliary dyskinesia (PCD) is a genetic disorder that severely affects the quality of life, manifests early in life, and leads to premature death. PCD is characterized by dysfunction of motile cilia that causes progressive impairment of pulmonary function and severe respiratory infections. There is no specific cure. This study demonstrates that gene dysfunction causing […]
Deletions of 5′ HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus
Deletions of the HoxC gene cluster result in variable phenotypes in mice, but have been rarely described in humans. Here, we report chromosome 12q13.13 microdeletions ranging from 13-175 kb and involving the 5’ HOXC genes in four families segregating congenital lower limb malformations, including clubfoot, vertical talus and hip dysplasia. We identified reduced HOXC gene […]
CRISPR-Cas9 for medical genetic screens: applications and future perspectives
CRISPR-Cas9 (Clustered regularly interspaced short palindromic repeats-associated nuclease 9) systems, the versatile and convenient tools for genome editing and epigenome modulation, have been applied in various genomic screen studies. Compared with conventional RNAi screens, CRISPR screens incur less off-target effects and can be used in multiple formats and can target both coding and noncoding regions […]
Local genotype influences DNA methylation at two asthma-associated regions, 5q31 and 17q21, in a founder effect population
Chromosome 5q31 and 17q12-q21 regions show strong genetic association with asthma, however not everyone who carries a risk allele is affected. We hypothesized that inter-individual variation in promoter DNA methylation may modify the risk of asthma development. DNA methylation levels in blood of asthmatic and non-affected individuals from the Saguenay-Lac-Saint-Jean asthma familial collection were analyzed. […]