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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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 ... -
Interim results from the IMPACT study: evidence for prostate-specific antigen screening in BRCA2 mutation carriers
(Elsevier, 2019-12)Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with germline BRCA1/2 mutations. -
MNS1 variant associated with situs inversus and male infertility
(Nature, 2020-01)Ciliopathy disorders due to abnormalities of motile cilia encompass a range of autosomal recessive conditions typified by chronic otosinopulmonary disease, infertility, situs abnormalities and hydrocephalus. Using a ... -
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping
(Nature, 2019-09)Nystagmus is a disorder of uncontrolled eye movement and can occur as an isolated trait (idiopathic INS, IINS) or as part of multisystem disorders such as albinism, significant visual disorders or neurological disease. ... -
Prostate cancer risks for male BRCA1 and BRCA2 mutation carriers: a prospective cohort study
(Elsevier, 2020-01)BRCA1 and BRCA2 mutations have been associated with prostate cancer (PCa) risk but a wide range of risk estimates have been reported that are based on retrospective studies. -
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
(Nature, 2019-08-07)Sifrim-Hitz-Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants in CHD4. In this study, we investigated the clinical spectrum of the disorder, genotype-phenotype ... -
Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability
(BioMed Central, 2019-07)A pattern of major and minor congenital anomalies, facial dysmorphic features, and neurodevelopmental difficulties, including cognitive and social impairments has been reported in some children exposed to sodium valproate ... -
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
(Nature, 2019-07)AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at ... -
De novo variants in CNOT3 cause a variable neurodevelopmental disorder
(Nature, 2019-11)As a result of exome-based sequencing work performed by the DDD study, de novo variants in CNOT3 have emerged as a newly recognised cause of a developmental disorder. This paper describes molecular and clinical details of ... -
Delineating the expanding phenotype associated with SCAPER gene mutation
(Wiley, 2019-08) -
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan
(Wiley, 2019-11)Ciliopathies are a clinically and genetically heterogeneous group of disorders often exhibiting phenotypic overlap and caused by abnormalities in the structure or function of cellular cilia. As such, a precise molecular ...
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