Ciliopathies are a group of diseases triggered by the dysfunction of primary and/or motile cilia, caused by mutations in various genes. Mutations of the X-linked OFD1 gene, which mostly influence primary cilia, cause several syndromic ciliopathies. We identified four novel OFD1 mutations in males with symptoms typical of motile cilia dysfunction (primary ciliary dyskinesia, PCD), but without severe neurological, […]
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Retraction of flawed research articles: the case of genetics
The scientific community corrects flawed articles by publishing corrections of the erroneous data or by retracting the whole article. Our research has shown that 1582 genetics articles were retracted between 1970 and 2018, with an estimated retraction rate of 0.15% −which is rather high with respect to the all−disciplines estimated retraction rate of 0.04%. The […]
RASA1 mosaic mutations in patients with capillary malformation – arteriovenous malformation
Capillary malformation – arteriovenous malformation is an autosomal dominant disorder, characterised by capillary malformations and an increased risk of fast-flow lesions. It is caused by mutations in two genes: RASA1 or EPHB4. Around 25% of the patients remain unexplained. In this study, we show that some of the so called “negative cases” are caused by […]
CCMG Practice Guideline: Laboratory Guidelines for Next-Generation Sequencing
The Canadian College of Medical Geneticists (CCMG) Laboratory Guidelines for Next-Generation Sequencing position statement provides guidance for the use of NGS in Canadian clinical genetic laboratories. The guidelines cover NGS applications for detection of variants in genomic DNA and mitochondrial DNA for inherited disorders, and for somatic variants in tumour DNA for acquired cancers. Intended […]
One in three highly selected Greek breast cancer patients carries a loss-of-function variant in a cancer susceptibility gene
Pathogenic variants in a number of genes, conferring high or moderate risks have been associated to hereditary breast cancer. Studying a highly selected cohort of 1,382 Greek breast cancer patients, 436 inherited pathogenic variants distributed in twenty-eight genes, have been identified. Beyond established associations, i.e. high breast cancer risk conferred by TP53 and PALB2 pathogenic […]
Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria
Individuals with mutations in the CDH1 gene have the inherited hereditary diffuse gastric cancer syndrome. This study is the first report on cancer risk in patients with CDH1 mutations that were not previously selected from families highly suspicious for this syndrome. The results indicate that gastric cancer risks are lower and age at diagnosis higher […]
Genetic characteristics of retinitis pigmentosa in 1,204 Japanese patients
Retinitis pigmentosa (RP) is the most common form of hereditary retinal degenerative disease worldwide. We performed large-scale high-coverage targeted resequencing of 83 causative genes of RP. The analyzed samples accounted for more than 4 % of all RP patients in Japan, leading us to reveal comprehensive characteristics of causative genes and variants in the Japanese […]
Familial bilateral cryptorchidism is caused by recessive variants in RXFP2
Undescended testes or cryptorchidism is when one or both testes do not move down into the scrotum once developed. Found in 1.6 to 9.0% of boys, if left untreated, it can increase the risk of testicular cancer or infertility. We describe a family with four boys born with undescended testes. We identified a genetic change in […]
Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis
In this article, the authors test for enrichment of copy number variants (CNVs) at 55 well-characterized hotspots of recurrent copy number variation within a large cohort of isolated adolescent idiopathic scoliosis (AIS) patients. Of these 55 hotspots, only distal 16p11.2 duplications were enriched in AIS cases compared to control individuals. The authors replicated this finding […]
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications
Classification of rare, multisystemic connective tissue disorders (CTDs) can be difficult due to overlapping features with multiple CTDs and scarcity of clinical information. We describe 3 individuals in one family with a rarely reported autosomal recessive CTD due to pathogenic variants in PLOD3 that encodes the lysyl hydroxylase 3 enzyme, important for post-translational collagen modification. […]