• Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene 

  Rankin, Julia (Wolters Kluwer Health, Inc., 2020-06-10)

  Objective: To report a series of patients with cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma (CBL) gene and examine the functional role of the identified mutant Cbl protein. ...

• Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism 

  Houghton, Jayne A. L. (Wiley, 2020-04-23)

  Advances in genomics and 18F-DOPA PET-CT imaging have transformed the management of infants with Congenital Hyperinsulinism. Preoperative diagnosis of focal hyperinsulinism permits limited pancreatectomy with improved ...

• Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants 

  Brewer, Carole (Nature Publishing Group, 2020-10)

  Purpose: We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks for BRCA1 and BRCA2 pathogenic variant carriers. Methods: ...

• Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy 

  Robinson, H. K.; Mallin, L.; Mabin, David C.; Turner, Claire L.; Ellard, Sian (Wiley, 2020-07-15)

  Childhood dilated cardiomyopathy (DCM) is a leading cause of heart failure requiring cardiac transplantation and approximately 5% of cases result in sudden death. Knowledge of the underlying genetic cause can aid prognostication ...

• UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants 

  Gibson, Sarah (BMJ, 2020-06-22)

  Constitutional pathogenic variants in TP53 are associated with Li-Fraumeni syndrome or the more recently described heritable TP53-related cancer syndrome and are associated with increased lifetime risks of a wide spectrum ...

• Prostate Cancer Risk by BRCA2 Genomic Regions 

  Brewer, Carole (Elsevier Science, 2020-10)

  A BRCA2 prostate cancer cluster region (PCCR) was recently proposed (c.7914 to 3') wherein pathogenic variants (PVs) are associated with higher prostate cancer (PCa) risk than PVs elsewhere in the BRCA2 gene. Using a ...

• Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 Variant 

  Tysoe, Carolyn; Caswell, Richard (Elsevier Science, 2020-10)

  Purpose: To describe patients with late-onset pseudoxanthoma elasticum (PXE) associated with a likely hypomorphic ABCC6 variant. Design: Retrospective observational case series. Methods: Clinical evaluation, multimodal ...

• Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations 

  Shaw-Smith, Charles (Wiley, 2020-06)

  Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental disorder caused by loss-of-function variants in NR2F1 and characterized by visual impairment, developmental delay, and ...

• Primrose syndrome: Characterization of the phenotype in 42 patients 

  Turnpenny, Peter (Wiley, 2020-06)

  Primrose syndrome (PS; MIM# 259050) is characterized by intellectual disability (ID), macrocephaly, unusual facial features (frontal bossing, deeply set eyes, down-slanting palpebral fissures), calcified external ears, ...

• Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome 

  Cleaver, Ruth (Oxford University Press, 2020-07-21)

  CTNND1 encodes the p120-catenin (p120) protein, which has a wide range of functions, including the maintenance of cell-cell junctions, regulation of the epithelial-mesenchymal transition and transcriptional signalling. Due ...

• Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants 

  Rankin, Julia (Wolters Kluwer Health, 2019-10-30)

  Objective: To determine the clinical, radiologic, and molecular characteristics of RNA polymerase III-related leukodystrophy (POLR3-HLD) caused by biallelic POLR1C pathogenic variants. Methods: A cross-sectional observational ...

• Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy 

  Barwick, K. E. S.; Baple, Emma L.; Crosby, Andrew H. (American Society for Clinical Investigation, 2020-03-02)

  Notch signaling is a highly conserved intercellular pathway with tightly regulated and pleiotropic roles in normal tissue development and homeostasis. Dysregulated Notch signaling has also been implicated in human disease, ...

• Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders 

  Turnpenny, Peter (Elsevier Science, 2020-03-05)

  The Rho-guanine nucleotide exchange factor (RhoGEF) TRIO acts as a key regulator of neuronal migration, axonal outgrowth, axon guidance, and synaptogenesis by activating the GTPase RAC1 and modulating actin cytoskeleton ...

• Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism 

  Gunning, Andrew C; Parish, Andrew; Stals, Karen L; Baptista, Julia; Tysoe, Carolyn; Baple, Emma; Ellard, Sian; Caswell, Richard; Wright, Caroline F (Elsevier Science, 2020-02-06)

  Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The recessive form includes subjects with biallelic deletions mediated by non-allelic homologous ...

• Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants 

  Gutowski, Nicholas J.; Rankin, Julia (IOS Press, 2020-03)

  Pathogenic variants in the Glycyl-tRNA synthetase gene cause the allelic disorders Charcot-Marie-Tooth disease type 2D and distal hereditary motor neuropathy type V. We describe clinical features in 8 unrelated patients ...

• Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers 

  Brewer, Carole (BioMed Central, 2020-01-16)

  Background: The effect of risk-reducing salpingo-oophorectomy (RRSO) on breast cancer risk for BRCA1 and BRCA2 mutation carriers is uncertain. Retrospective analyses have suggested a protective effect but may be substantially ...

• Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging 

  Mill, Jonathan; Crosby, Andrew H.; Baple, Emma L (CSHL Press, 2019-07)

  Germline mutations in fundamental epigenetic regulatory molecules including DNA methyltransferase 3 alpha (DNMT3A) are commonly associated with growth disorders, whereas somatic mutations are often associated with malignancy. ...

• Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families 

  Rawlins, Lettie E; Baple, Emma L; Crosby, Andrew H. (Biomed Central, 2019-12)

  Neurological disorders are a common cause of morbidity and mortality within Pakistani populations. It is one of the most important challenges in healthcare, with significant life-long socio-economic burden.

• Lipid metabolic pathways converge in motor neuron degenerative diseases 

  Baple, Emma L; Crosby, Andrew H (Oxford Academic, 2020-04)

  Motor neuron diseases (MNDs) encompass an extensive and heterogeneous group of upper and/or lower motor neuron degenerative disorders, in which the particular clinical outcomes stem from the specific neuronal component ...

• Hereditary Leiomyomatosis and renal cell cancer: clinical, molecular, and screening features in a cohort of 185 affected individuals 

  Cleaver, Ruth (Elsevier, 2019-12)

  Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumour predisposition syndrome characterised by predisposition to cutaneous and uterine leiomyomata and renal cell carcinoma (RCC).

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