Truncating mutations in MAGEL2, which lead to a shortened protein, cause Schaaf-Yang syndrome (SYS). We have compiled all reported cases and provide Clinical Management Recommendations to help families and physicians manage these patients. We have further characterized the cellular effects of these mutations. We have introduced a normal (full) or truncated form of the gene […]
Latest articles
A founder UMOD variant is a common cause of hereditary nephropathy in the British population
In this study, we report the unexpected finding of an unusual UMOD variant (c.278_289delTCTGCCCCG AAG insCCGCCTCCT) in multiple pedigrees within the British population, all of White British ancestry, from a wide geographical distribution across the UK. A common extended haplotype indicative of an ancestral variant was identified within 1Mb of the UMOD variant in all individuals undergoing genome sequencing through […]
TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation
Bi-allelic pathogenic variants in the TMPRSS3 gene result in non-syndromic deafness at the DFNB8/10 locus. TMPRSS3-realted hearing loss is a common form of congenital deafness in humans. Although two decades have passed since TMPRSS3 was casually linked to deafness, its expression in the inner ear and the best course of clinical intervention for individuals with […]
CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR
CDKN1C is a negative regulator for cell proliferation. KCNQ1OT1:TSS-differentially methylated region (DMR) resides on chromosome 11p15.5 and regulates CDKN1C expression via KCNQ1OT1 expression. Paternal deletions involving the KCNQ1OT1:TSS-DMR result in variable phenotypes. However, expression analyses for CDKN1C in these patients are very limited. We identified two patients with prenatal and postnatal growth failure and clinical […]
Axenfeld-Rieger syndrome: more than meets the eye
Axenfeld-Rieger syndrome (ARS) is a rare eye syndrome which has been known for 100 years but remains incompletely understood. Through analysis of 128 individuals with genetically confirmed ARS, we expand the spectrum of clinical features associated with this disorder and identify De Hauwere syndrome as a type of ARS. The two main genetic causes result […]
A digital pathway for genetic testing in UK NHS cancer patients: BRCA-DIRECT study internal pilot
Currently, fewer than 1 in 5 women with breast cancer are eligible for NHS testing for inherited gene changes. This information can inform treatment of breast cancer, as well as enabling patients and their family members to better understand their future risks of developing cancer. One of the main limiting factors is availability of expert […]
Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China
Cystic fibrosis is a rare disease in Chinese populations, with quite few cases reported in literature. This is the largest study so far and most comprehensive analysis of genotypic features of CF in Chinese population till today. Meanwhile, the geographical distributions of the most frequent variants were reported for the first time. This study could […]
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans
PDAC syndrome is a rare and severe syndrome characterized by defects in development of the lung, diaphragm, eyes, and heart. Two genes involved in the action of retinoic acid, a derivative of vitamin A, were previously implicated in PDAC syndrome. We demonstrate in this manuscript the involvement of a third gene, named WNT7B, in patients […]
A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype
Genetic illnesses can be passed down from parents to children through markers in their DNA. Some diseases, such as Silver-Russel Syndrome (SRS), also depend on what parent you are inheriting this marker from. For example, inheriting the marker from your mother might be harmless but inheriting it from your father could cause disease. This is […]
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach
Whole genome sequencing (WGS) is a technique to determine every letter of DNA for an individual. The UK 100,000 Genomes Project (100K) performed WGS for NHS patients with rare diseases, including a group of genetic disorders called ciliopathies. Here, Best et al. analysed WGS data from ciliopathy patients in 100K using a reverse phenotyping strategy. […]