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 […]
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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 […]
Evaluation of the relative effectiveness of the 2017 updated Manchester scoring system for predicting BRCA1/2 mutations in a Southeast Asian country
BRCA1/2 mutations are responsible for a significant portion of hereditary breast and ovarian cancers. Identifying patients with BRCA1/2 mutations allows for gene-directed surveillance and intervention. The Manchester Scoring System (MSS) is a quick and easy algorithm to identify patients with a likelihood of having a BRCA1/2 mutation. Recently, a third iteration of MSS (MSS3), validated […]
Cole-Carpenter syndrome due to recurrent P4HB variant
In 1987, Cole and Carpenter reported two infants with multiple fractures and deformities of bone, with a skeletal phenotype similar to severe brittle bone disease. They were reported to have normal intelligence. This came to known as Cole-Carpenter syndrome (CCS). With advances in genetic screening, in 2015, these two patients were reported to have changes […]
Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations
MIRAGE syndrome is a life-threatening congenital disorder caused by deleterious SAMD9 mutations. In MIRAGE syndrome patients, multiple organ systems, including the haematopoietic system, are affected. We experienced two atypical MIRAGE syndrome patients who did not have any haematopoietic problems. In leukocyte DNA samples of the two patients, not only a deleterious SAMD9 mutation, but also […]
Pediatric Ovarian Tumours and Their Associated Cancer Susceptibility Syndromes
Ovarian cancers arising in children and adolescents are rare events and can be associated with various cancer predisposition syndromes (i.e., genetic conditions that heighten the risk of developing cancers throughout life). Although germ cell tumours are the most frequent subtype of ovarian cancer seen in the pediatric age group, a multitude of other tumours can […]
Genome-wide association study of telomere length among South Asians identifies a second RTEL1 association signal
Telomeres are DNA-protein complexes that protect chromosome ends. Leukocyte telomere length (LTL) is a potential biomarker of aging and risk for age-related disease. Prior genome-wide association (GWA) studies have identified 10 inherited genetic variants that influence LTL in populations of European ancestry. However, there is evidence of considerable population differences in LTL. In this GWA […]