Individuals carrying mutations in the CDH1 gene are at increased risk of developing stomach cancer (lifetime risk 7-42%) and breast cancer (lifetime risk 37-55%). Identification of these individuals through genetic testing is important because these cancers can be prevented by prophylactic surgery or detected early with endoscopy and breast imaging. Guidelines recommend genetic testing when […]
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Foecal incontinence disorders in Wolfram syndrome: a new manifestation
Wolfram syndrome type 1 is an autosomal recessive neurodegenerative disease causing many symptoms: insulin-dependent diabetes, optic neuropathy, hearing loss, diabetes insipidus, urinary disorders and balance disorders. A patient association alerted us to the possible existence of fecal incontinence in this syndrome. To confirm its existence of this symptom in this disease, we sent a questionnaire […]
KIF21-associated peripheral neuropathy defined by impaired binding with TUBB3
This study describes a young girl with a brain anomaly, eye misalignment, and progressive loss of strength and coordination. Genetic testing revealed a previously undescribed mutation in the KIF21A gene, inherited neither from her mother nor father. Laboratory experiments suggested that this mutation in KIF21A impairs its binding to TUBB3, a protein crucial for nerve […]
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy
This study assesses the prevalence of genetic developmental and epileptic encephalopathies (DEEs) in Italy, covering diagnoses performed at 15 epilepsy centres over 11 years. The analysis was extended to 98 genes associated with these conditions. 1,568 patients with DEE caused by specific genetic variants were identified, leading to an estimated prevalence rate of 2.6 per […]
Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study
A diversity of retinal degenerations has been reported to be associated with biallelic variants in CRB1, the signature findings of CRB1 and the potential genotype-phenotype correlation have yet to be clarified. As preclinical research progresses, understanding the unique features of the CRB1 gene is crucial. Our multicenter retrospective cohort study summarizes comprehensive genotypic and phenotypic […]
WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females
Our genetic scan of WDR45 gene on 32 girls with intellectual disabilities (ID) found two having disease-causing WDR45 variants. Together with our previous findings from 19 girls subjected to whole genome sequencing, WDR45 variants accounts for 12% of female ID patients, apparently suggesting its major role in female ID patients. We also performed an extensive […]
Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study
An estimated 3% of endometrial cancers are caused by Lynch Syndrome. These can be identified via a step-wise testing pathway of somatic tumour testing followed by germline gene testing. Using complete national data amalgamated from diagnostic laboratories via the English National Disease Registration Service, we conducted a retrospective national population-based observational study of Lynch Syndrome testing in […]
Commentary on Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank
Lynch syndrome is now considered to comprise four different heritable conditions, each caused by changes in a different gene and resulting in different levels of cancer risk. We previously calculated and published these risks according to age and sex, using the Prospective Lynch Syndrome Database. We also showed that colonoscopy does not prevent bowel cancer […]
UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression
The UBTF gene produces two important proteins, UBTF1 and UBTF2. A specific change in the UBTF gene, called a gain-of-function mutation, has been linked to a condition called CONDBA. However, until now, there haven’t been any reports of patients with a different kind of issue—having only one working copy of the UBTF gene (this is […]
Canadian College of Medical Geneticists: clinical practice advisory document – responsibility to recontact for reinterpretation of clinical genetic testing
There are currently differences and a lack of guidance for what to do about recontacting former patients when there may be changes in clinical genetics result interpretation. While there is no duty by law to do it, there may be a shared responsibility between the laboratory practitioners, ordering clinicians and the patient. This document discusses […]