The 5α-reductase type 2 (5α-RD2) deficiency caused by mutations in the steroid 5α-reductase 2 (SRD5A2) gene results in variable degrees of undervirilization in patients with 46,XY disorders of sex development. Through a multi-center cooperative effort, 190 Chinese subjects diagnosed with 5α-RD2 deficiency were consecutively enrolled, representing the largest case number so far. Based on this, […]
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Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families
At this moment, risk management for non-BRCA1/2 breast cancer families is mainly based on family history, calculated by risk prediction algorithms such as BOADICEA. Here, we use a Polygenic Risk Score based on 161 breast cancer associated SNPs, to show the potential clinical utility of this PRS within non-BRCA1/2 high risk breast cancer families including […]
Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome
Williams-Beuren syndrome is a neurodevelopmental disorder caused by a deletion at chromosome 7q11.23. It is characterised by a hypersocial neurocognitive profile, often defined as a “cocktail party” personality. However, the prevalence of Autism Spectrum Disorder is higher among patients with Williams-Beuren syndrome, a striking finding considering their opposite phenotype. Here, we study eight individuals with […]
‘Metaphyseal dysplasia without hypotrichosis’ can present with late-onset extraskeletal manifestations
Changes in the RMRP gene result in rare skeletal disorders: metaphyseal dysplasia without hypotrichosis (MDWH) and cartilage-hair hypoplasia (CHH). We hypothesized that MDWH may, similar to CHH, associate with immune deficiency and cancer. We collected data for 80 patients with RMRP mutations followed for over 30 years, and among them we identified 10 patients with features consistent with MDWH […]
Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations
Accurate acrosome formation and flagellum assembly during spermiogenesis are important prerequisites to ensure the fertilization of sperm and eggs. However, no spermiogenesis related gene mutation was reported to directly result in disorders of acrosome formation and flagellum assembly. In this manuscript, by whole exome sequencing of 47 individuals with severe asthenozoospermia from 45 unrelated Chinese […]
Long-read sequencing identified repeat expansions in the 5′UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease
Neuronal intranuclear inclusion disease (NIID) is a myth and has perplexed the neurologists for half a century, due to its high clinical heterogeneity with unknown genetic causes. This progressive neurodegenerative disease is characterized by the formation of eosinophilic hyaline intranuclear inclusions in neuronal system and multiple organs. In this article, the authors performed whole-genome sequencing […]
Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies
Low cholesterol is a common feature among patients with congenital disorders of glycosylation (CDG), but the exact underlying mechanisms remain unknown. We explored the role of proprotein convertase subtilisin/kexin type 9 precursor (PCSK9), a major cholesterol regulator, in mediating low cholesterol among CDG patients. First, we describe a CDG patient with low circulating PCSK9 levels. […]
Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms
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, […]
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 […]