A decline in sperm motility is greatly influential on fertilization efficiency. Sperm motility is affected not only by lifestyle and environmental factors but also by genetic factors. However, the genetic influences upon individual differences in sperm motility remain unknown. We have conducted a genome-wide association study (GWAS) in Japanese men, to clarify the genetic determinants […]
Latest articles
Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss
Hearing loss is a common sensory defect that can significantly impact quality of life. The majority of congenital cases are attributable to genetic factors. To date, more than one hundred deafness genes have been reported. Using whole exome sequencing and linkage analysis, we identified a heterozygous variant, c.296G>A, in IFNLR1 as a strong candidate deafness […]
Evidence for genetic anticipation in von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome (vHL) is a hereditary cancer syndrome that predisposes to developing tumours in multiple organs. Initiating tumour surveillance before tumours are likely to occur is critical for optimal patient outcomes. In our study, we found significantly earlier ages of tumour onset in children with vHL compared to their vHL parents, indicating vHL may exhibit genetic anticipation (where symptoms […]
Risk category system to identify pituitary adenoma patients with AIP mutations
Pituitary tumours arise from the master gland located at the bottom of the brain. They can cause severe disease due to their abnormal hormone secretion and local damaging key structures such as vision. Around 5% of pituitary adenomas occur due to a heritable condition, we specifically studied patients and their families with mutation in the […]
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)
Ring chromosomes with a highly complex structure derived by chromoanasynthesis events have been so far reported in only in cancer. We show that a germline ring chromosome 22, detected in a child with a severe neurodevelopmental disorder, was in fact the product of a de novo catastrophic event producing the deletion of the distal 22q13 […]
Catalogue of inherited disorders found among the Irish Traveller population
Irish Travellers are an endogamous nomadic population, numbering up to 40,000, on the island of Ireland. Their origins are unclear but date back centuries. The Irish Government awarded Irish Travellers ethnicity status in March 2017. There are smaller populations of Irish Travellers living in Europe & USA. As they practice consanguinity, many rare inherited disorders […]
A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews
Chronic granulomatous disease (CGD) is caused by mutations in an enzyme that generates reactive oxygen compounds in white blood cells, resulting in frequent, life-threatening infections. We investigated a family in which both parents were initially found carriers for a common pathogenic mutation in NCF1, one of the genes causing this disease. Genetic analysis of the […]
DMC1 mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing
It is vital important to produce functional sperms and oocytes for animals with sexual reproduction, including humans. Meiosis is a common mechanism involved in gametogenesis. However, few meiosis genes were reported to result in disorders of both spermatogenesis and oogenesis in a family. In this manuscript, Tan et al. described two siblings with severe infertility […]
Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility
In Northern Europe familial clustering is seen in 10-20% of gastric cancer patients. In fewer than 3% a pathogenic variant in CDH1, the most important gene involved in hereditary gastric cancer, is detected. The majority of gastric cancer families remain genetically unexplained. We have sequenced a large cohort of unexplained familial gastric cancer patients for […]
Gene editing as a promising approach for respiratory diseases
Respiratory diseases, including COPD, asthma, cystic fibrosis, lung cancer, lung fibrosis, and pneumonia, are leading causes of death toll in the world. People carrying bad genes (termed genetic mutations) are easy to have these airway and lung diseases. To correct these diseased genes is a powerful and promising approach. Zinc finger nucleases (ZFNs), transcription activator-like […]