A5006735114- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Liver Disease Diagnosis and Treatment
- Renal and related cancers
- Iron Metabolism and Disorders
- Pediatric Urology and Nephrology Studies
- RNA Research and Splicing
- Lymphatic System and Diseases
- RNA regulation and disease
- Hemoglobinopathies and Related Disorders
- Pancreatic function and diabetes
- Skin and Cellular Biology Research
- Hedgehog Signaling Pathway Studies
- Renal Diseases and Glomerulopathies
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Genomics and Chromatin Dynamics
- Lipid metabolism and disorders
- Liver Disease and Transplantation
- Medical Imaging and Pathology Studies
- Ocular Disorders and Treatments
- Child Development and Digital Technology
- Aortic Disease and Treatment Approaches
- Lysosomal Storage Disorders Research
- Cerebrovascular and genetic disorders
Nottingham City Hospital
2018-2025
University Hospitals of Leicester NHS Trust
2003-2023
Nottingham University Hospitals NHS Trust
2019-2023
Leicester Royal Infirmary
2014
University of Leicester
2014
St George's, University of London
1991
Mohandass, Karthick Navin; Sedehizadeh, Saam; Saini, Gauri; Byrne, Jennifer; Jones, Gabriela Author Information
Purpose Heterozygous TUBA1A variants are a well-recognised cause of malformations cortical development (MCDs). Although existing literature − predominantly radiologically ascertained cohorts suggests complete penetrance the MCD phenotype in this condition, there is also anecdotal contrary evidence. Understanding clinical spectrum TUBA1A-related disorders informs counselling and decisions, especially for those identified early life. Methods Individuals with were through large exome sequencing...
Abstract Background The ITPR1 gene encodes the inositol 1,4,5‐trisphosphate (IP 3 ) receptor type 1 R1), a critical player in cerebellar intracellular calcium signaling. Pathogenic missense variants cause congenital spinocerebellar ataxia 29 (SCA29), Gillespie syndrome (GLSP), and severe pontine/cerebellar hypoplasia. pathophysiological basis of different phenotypes is poorly understood. Objectives We aimed to identify novel SCA29 GLSP cases define core phenotypes, describe spectrum...
Abstract Background Short anagen hair (SAH) is a rare paediatric disorder characterized by short phase, an inability to grow long scalp and negative psychological impact. The genetic basis of SAH currently unknown. Objectives To perform molecular investigations in 48 individuals with clinical phenotype suggestive identify, if any, the this condition. Methods Exome sequencing was performed 27 patients diagnosed or complaint short, nongrowing hair. cohort screened for variants minor allele...
Steinfeld syndrome (MIM #184705) was first reported in 1982. It is characterised by holoprosencephaly and limb defects, however other anomalies may also be present. Following the initial description, three further cases have been literature. We report on a 23‐year‐old girl, with features of microform bilateral congenital elbow dislocation association hypoplastic radial heads. She identified to variant CDON gene inherited from her father who had ocular hypotelorism, but no clinical features....
Genetic causes of steroid-resistant nephrotic syndrome are being increasingly recognized. Mutations in NPHS2, which encodes the glomerular protein podocin, account for up to 17% sporadic and 40% familial cases, where they display an autosomal-recessive pattern inheritance. This report describes a non-consanguineous family with three generations individuals who either compound heterozygotes mutations NPHS2 or have inherited mutation non-neutral polymorphism (R229Q). As well as providing...
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Lymphedema distichiasis syndrome (LDS) is a rare, autosomal dominant genetic condition, characterized by lower limb lymphedema and distichiasis. Other associated features that have been reported include varicose veins, cleft palate, congenital heart defects, ptosis. We update previously family with pathogenic variant in FOXC2 (c.412‐413insT) where five affected individuals from the youngest generation had renal anomalies detected on prenatal ultrasound scan. These included four fetuses...
The clinical prevalence of Wilson's disease (WD) in the UK remains unknown. estimated genetic UK, 142/million, is higher than (15/million) reported other European studies. aim this study was to estimate WD utilising readily available laboratory and data.Patients with who attended Nottingham University Hospital NHS Trust (NUH) between 2011 2018 were identified using multiple sources case ascertainment: serum ceruloplasmin, 24-hour urinary copper, 'Wilson' liver biopsy report, hospital...
Introduction Motor neuron disease (MND) and frontotemporal dementia (FTD) comprise a neurodegenerative spectrum. Genetic testing counselling is complex in MND/FTD owing to incomplete penetrance, variable phenotype variants of uncertain significance. Affected patients unaffected relatives are commonly referred clinical genetics consider genetic testing. However, no consensus exists regarding how such should best be undertaken on which patients. Objective We sought ascertain UK practice...
To effect of pregnancy on IBD and the outcome in women with was studied over a 2-year period. Thirty-four pregnancies 32 attending maternal medicine clinic teaching hospital Leicester were followed-up during after delivery. Eighteen had Crohn's disease (20 pregnancies) 14 ulcerative colitis. Four active at conception all them flare pregnancy. There flare-up (42%) cases mainly third trimester. Sixteen affected by anaemia. The majority treated oral iron, one Jectofer two needed blood...
Potocki-Shaffer syndrome (PSS) is a rare neurodevelopmental disorder caused by deletions involving the 11p11.2-p12 region, encompassing plant homeodomain finger protein 21A (PHF21A) gene. PHF21A has an important role in epigenetic regulation and variants have previously been associated with specific that, whilst sharing some features of PSS, notable differences. This study aims to expand phenotype, particularly relation overgrowth, variants. Analysis phenotypic data was undertaken on 13...
We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study. Individuals in study who had pathogenic/likely pathogenic genotype DECIPHER database were selected inclusion (n = 5010). Clinical notes regional genetics services reviewed assess predefined relating interventions, prenatal choices, and information provision. Outcomes recorded 4237 diagnosed probands (85% of those eligible) all 24 recruiting centers across...