Women carrying a fault in BRCA1/BRCA2 genes are at increased risk of breast and ovarian cancer. Identification of BRCA-carriers through genetic testing offers opportunities of early diagnosis, targeted treatment and cancer prevention. Our study evaluated the current rate at which BRCA-carriers have been detected and the time it would take to detect all identifiable BRCA-carriers […]
Latest articles
Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders (Contributed by Dr. Rebekah Jobling)
Chitayat-Hall syndrome (CHS) causes contractures of hands and feet, intellectual disability and growth hormone (GH) deficiency, among other features. GH deficiency leads to poor growth and may cause recurrent episodes of hypoglycemia, which can damage the developing brain if untreated. We identify mutations in MAGEL2, located within the Prader-Willi syndrome region at 15q11-q13, as the […]
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome (Contributed by Professor Alan Lehmann)
Cockayne Syndrome (CS) is a rare inherited disorder with severe problems of growth and development in many parts of the body, as well as causing sun-sensitivity. In a four-centre study from scientists in Nagoya, Japan, Strasbourg, France, Pavia, Italy and Sussex, UK, we have identified the genetic mutations causing the disorder in 124 CS patients […]
Complex phenotype of chromosomal abnormality and muscle dystrophy (Contributed by Dr. Judit Balog)
Monosomy of several genes as a results of partial or full chromosome arm deletion contributes to the development of a complex phenotype which makes diagnosis and possible therapy difficult. Our study explores if individuals with partial or full deletion of chromosome 18 short arm, resulting in the monosomy of SMCHD1 (and several other) gene, can […]
Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly (Contributed by Dr. Aslı Tolun)
In a Pakistani family with limb malformations that include short fingers, cross fingers, fused fingers, fused finger bones, fused toes and supernumerary toes plus skeletal defects that include scoliosis, dislocated patellae and fibulae and pectus excavatum, we identified the underlying mutation as a homozygous five-amino acid deletion in protein CHST11. Our findings confirm the crucial […]
Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada (Contributed by Dr. W.T. Gibson)
This is an update of previous 2001 Canadian guidelines on how doctors and diagnostic lab specialists should use and interpret a technology called chromosomal microarray analysis (CMA) when this test is done on human DNA during an ongoing pregnancy. The authors developed these guidelines after reading and interpreting up-to-date international literature in the field, and […]
Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome (Contributed by Dr. Christian P. Schaaf)
For many chromosomal disorders, we wonder which of the genes within the critical region account for the main clinical features of the overall condition. In Prader-Willi syndrome (PWS), which is caused by the absence of paternally expressed genes on chromosome 15, the role of the MAGEL2 gene has been highlighted by the identification of individuals […]
Pediatric Ovarian Tumours and Their Associated Cancer Susceptibility Syndromes (Contributed by Dr. Catherine Goudie)
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 […]
Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations (Contributed by Dr. Satoshi Narumi)
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 […]
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability (Contributed by Genay Pilarowski)
CHD1 is a chromatin remodeler which plays a role in ensuring chromatin accessibility across the genome in stem cells. Here we report that novel missense variants in CHD1 are associated with a neurodevelopmental phenotype that includes autism, speech apraxia and hypotonia. CHD1 has not previously been associated with such a phenotype and, interestingly, the location […]