Clinical Genetics (Peninsula Genetics)
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Research outputs from the Clinical Genetics (Peninsula Genetics) Service at the RD&E.
Recent Submissions
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Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 Variant
(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
(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
(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
(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
(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
(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
(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
(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
(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
(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
(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
(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
(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
(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). -
Amniotic band sequence in paternal half-siblings with vascular Ehlers-Danlos Syndrome
(Wiley, 2020-03)Familial amniotic band sequence (ABS) is rare but has been reported in the offspring of mothers with connective tissue disorders. We present a family of two half-siblings with ABS who share the same biological father. ... -
Alcohol consumption, cigarette smoking, and risk of breast cancer for BRCA1 and BRCA2 mutation carriers: results from the BRCA1 and BRCA2 Cohort Consortium
(American Association for Cancer Research, 2020-02)Tobacco smoking and alcohol consumption have been intensively studied in the general population to assess their effects on the risk of breast cancer, but very few studies have examined these effects in BRCA1 and BRCA2 ... -
Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness
(HighWire, 2020-02)Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in BRCA1/2 were associated with risk of overall prostate cancer ... -
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction
(Nature, 2019-11)Most classical aniridia is caused by PAX6 haploinsufficiency. PAX6 missense variants can be hypomorphic or mimic haploinsufficiency. We hypothesized that missense variants also cause previously undescribed disease by ... -
Misannotation of multiple-nucleotide variants risks misdiagnosis
(Wellcome, 2020-01)Multiple Nucleotide Variants (MNVs) are miscalled by the most widely utilised next generation sequencing analysis (NGS) pipelines, presenting the potential for missing diagnoses. These variants, which should be treated as ...
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