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 […]
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Complex phenotype of chromosomal abnormality and muscle dystrophy
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
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
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
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
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
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
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 […]
New insights into SERCA2a gene therapy in heart failure: pay attention to the negative effects of B-type natriuretic peptides
Heart failure (HF) is an end-stage cardiovascular disease with high rates of hospitalization and mortality. SERCA2a Gene therapy is a novel potential method for treating HF. CUPID is the first phase 1/2 study to assess the effects of SERCA2a gene transfer on patients with HF. However, though promising results were observed in CUPID 1, SERCA2a […]
Comprehensive analysis of the MLH1 promoter region in 480 colorectal cancer patients and 1,150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation
Most MLH1 germline defects predisposing for Lynch Syndrome constitute sequence changes or deletions in the coding region. Searching for variants in the MLH1 promoter causative for silencing or methylation, we sequenced the extended MLH1 promoter region for 480 colorectal cancer patients and 1,150 controls. We detected ten rare promoter variants. One was found in in […]