The trichothiodystrophies (TTD) are characterised by brittle, sulphur deficient hair that has an unusual tiger-tail banding pattern under polarising light microscopy. People affected by TTD can experience a range of symptoms including dry skin, short stature, intellectual disability and susceptibility to infection. About half of the patients have an inability to properly repair DNA damage […]
Latest articles
Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1
Genetic changes of both NF1 genes are postulated to be necessary for the development of tibial pseudarthrosis in individuals with neurofibromatosis type 1 (NF1). However, the tissue origin of the “second hit” mutation remains unclear. Macro-sections of tibial pseudarthrosis tissue were exome sequenced, as well as a blood sample from a child with NF1. A […]
Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature
Defects in complex IV of the respiratory chain may result in a variety of phenotypes and be caused by mutations in 20 genes, most of which are involved in assembly of the complex. Here, we have for the first time identified mutations in COA3 as a cause of complex IV deficiency in a patient with […]
mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing
The rapid advances of Next-generation sequencing (NGS) technologies have greatly facilitated clinical genetic diagnosis of sporadic disease genome-widely. However, the vast amount of mutations generated by NGS poses multiple challenges for identification of functional mutations and candidate genes. We devolopped a web server named mirTrios to accurately detect de novo mutations (DNMs) based on Expectation-maximization […]
SeqHBase: a big data toolset for family-based sequencing data analysis
High-throughput sequencing technologies are now increasingly used to find disease genes, but it is difficult to infer biological insights from massive amounts of data in a short period of time. We developed a software framework called SeqHBase to help quickly identify disease genes. SeqHBase was developed based on Apache Hadoop and HBase infrastructure, which works […]
The twisting tale of woolly hair: a trait with many causes
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 […]
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, […]