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 […]

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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 […]

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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 […]

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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 […]

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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 […]

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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 […]

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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 […]

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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 […]

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Genome-wide association study identifies ERBB4 on 2q34 as a novel locus associated with sperm motility in Japanese men

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 […]

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