Woolly hair is a unique hair phenotype, which is characterized by extremely curly hair. While this type of hair is common in black people, it is extremely uncommon in non-blacks. When woolly hair appears together with thickening of the skin of the palms and soles, it should immediately raise the concern of Naxos or Carvajal […]
Latest articles
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder
Mitochondria are energy making organelles within our cells. Iron-sulphur cluster assemblies (Fe-Sc) take part in the energy production within mitochondria. Problems during the Fe-Sc assembly or reduction in the amount of the assembly molecules may be damaging to brain cells such as myelin sheaths. Such damage may eventually cause degeneration in white matter in human […]
Novel role for non-homologous end joining in the formation of double minutes in methotrexate-resistant colon cancer cells
Gene amplification plays an important role in tumor progression and development of drug resistance, which manifested cytogenetically as double minutes (DMs) or homogeneously staining regions (HSRs). To better understand the molecular mechanism by which HSRs and DMs are formed and how they relate to the development of methotrexate (MTX) resistance, two model systems harboring HSRs […]
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes
People born with a mutation in a gene called PTEN often develop cancer, but also show other symptoms including benign growths, an enlarged head and autism. To date it has been unclear whether the diversity seen in these patients is caused by differences in the way precise genetic changes alter the function of PTEN, or […]
MED25 and intellectual disability: from the backlands to the forefront of science
The practice of Genetics in areas of low human development index is not trivial. This manuscript tells a success story which combines training family health agents to pinpoint large consanguineous families with several individuals with deficiencies, conducting field medical evaluation in remote areas of Brazil and finalizing by state-of-art technology for linkage and high-throughput sequencing, […]
Mitochondrial mutations associated with aminoglycoside ototoxicity and hearing loss susceptibility identified by meta-analysis
Pediatric hearing loss is a common disorder and universal newborn hearing screening is used to aid in the early identification of children with hearing impairment. However this screening has a significant failure rate in newborns, and hearing loss may have delayed onset and be missed by newborn screening. Genetic screening of newborns for variants that […]
Mendelian Randomization Applied to Drug Development in Cardiovascular Disease: A Review
Observational epidemiology has implicated a wide range of biomarkers in the onset of human disease, however given that these methods are prone confounding it becomes difficult to identify causal biomarkers deserving of pharmaceutical intervention. Mendelian randomization (MR) is an emerging technique in human genetics which utilizes the power of random assignment of genetic information at […]
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes
Here, we identified recessive mutations in the PNPLA6 gene, encoding Neuropathy Target Esterase (NTE) protein, responsible for Oliver-McFarlane and Laurence-Moon syndromes in humans. Our finding expands the spectrum of PNPLA6-associated diseases to include hair abnormalities and pituitary atrophy, which can lead to intellectual disability and short stature. We further link the mechanisms among other PNPLA6-associated […]
CTNND2—a candidate gene for reading problems and mild intellectual disability
In a small subset of patients, apparently balanced structural chromosome rearrangements may associate with neurocognitive problems ranging from mild (ADHD, dyslexia) to severe (within the autism spectrum disorders and intellectual disability). Here, we use low coverage massive parallel whole genome sequencing and microarray analysis to identify hemizygous loss of CTNND2 in three individuals from two […]
Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement
Autosomal Dominant Hypercholesterolemia (ADH) is a heterogeneous common disorder characterized by elevated levels of plasma low-density lipoprotein (LDL-C), total cholesterol, and increased risk of cardiovascular disease. Uncovering the molecular determinants that underlie ADH is a major focus of cardiovascular research, but despite rapid technical advances, efforts to identify novel ADH genes have yet not been […]