Molecular Genetics
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Research outputs from the Molecular Genetics department at the RD&E. The Molecular Genetics Laboratory is in the RILD Building at the RD&E and is co-located with University of Exeter Medical School researchers in genetics, genomics and epigenetics. For more information, please visit their website: http://www.exeterlaboratory.com/molecular-genetics/
Recent Submissions
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Fetal alleles predisposing to metabolically favourable adiposity are associated with higher birth weight
(Oxford University Press, 2021-12-13)BACKGROUND: Higher birthweight is associated with higher adult BMI. Alleles that predispose to greater adult adiposity might act in fetal life to increase fetal growth and birthweight. Whether there are fetal effects of ... -
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms
(Cell Press, 2021-05-21)Clinical genetic testing of protein-coding regions identifies a likely causative variant in only around half of developmental disorder (DD) cases. The contribution of regulatory variation in non-coding regions to rare ... -
S-nitrosothiols, and other products of nitrate metabolism, are increased in multiple human blood compartments following ingestion of beetroot juice
(Elsevier, 2021-07-01)Ingested inorganic nitrate (NO(3)?) has multiple effects in the human body including vasodilation, inhibition of platelet aggregation, and improved skeletal muscle function. The functional effects of oral NO(3)? involve ... -
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy
(Wiley, 2020-02-01)We present eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (NM_001267550.1:c.39974-11T>G), inherited in trans with a second pathogenic TTN variant. ... -
Evaluation of pregnancy outcomes in women with GCK-MODY
(Wiley, 2021-06)Aims: To determine the fetal and maternal outcomes in pregnant women with Glucokinase-Maturity onset diabetes of the young (GCK-MODY). Methods: We studied the obstetric and perinatal outcomes in 99 pregnancies of 34 ... -
Evaluating variants classified as pathogenic in ClinVar in the DDD Study
(Nature Publishing Group, 2021-03)Purpose: Automated variant filtering is an essential part of diagnostic genome-wide sequencing but may generate false negative results. We sought to investigate whether some previously identified pathogenic variants may ... -
Evidence for 28 genetic disorders discovered by combining healthcare and research data
(Nature Publishing Group, 2020-10)De novo mutations in protein-coding genes are a well-established cause of developmental disorders1. However, genes known to be associated with developmental disorders account for only a minority of the observed excess of ... -
A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype
(Wolters Kluwer Health, Inc., 2020-04) -
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes
(HighWire, 2020-07-06)Background: Cilia are dynamic cellular extensions that generate and sense signals to orchestrate proper development and tissue homeostasis. They rely on the underlying polarisation of cells to participate in signalling. ... -
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome
(Wiley, 2020-07)Pathogenic variants in HNRNPH1 were first reported in 2018. The reported individual, a 13 year old boy with a c.616C>T (p.R206W) variant in the HNRNPH1 gene, was noted to have overlapping symptoms with those observed in ... -
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data
(Elsevier Science, 2019-11-07)Trio-based whole-exome sequence (WES) data have established confident genetic diagnoses in ∼40% of previously undiagnosed individuals recruited to the Deciphering Developmental Disorders (DDD) study. Here we aim to use the ... -
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
(Nature Publishing Group, 2020-05)An amendment to this paper has been published and can be accessed via a link at the top of the paper. -
Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance
(Nature Publishing Group, 2020-06)An amendment to this paper has been published and can be accessed via a link at the top of the paper. -
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance
(Nature Publishing Group, 2020-06)Purpose: Diagnosis of genetic disorders is hampered by large numbers of variants of uncertain significance (VUSs) identified through next-generation sequencing. Many such variants may disrupt normal RNA splicing. We examined ... -
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
(Highwire, 2020-03-13)Advances in technology have led to a massive expansion in the capacity for genomic analysis, with a commensurate fall in costs. The clinical indications for genomic testing have evolved markedly; the volume of clinical ... -
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor
(Frontiers Media SA, 2020-02-11)Multiple TREX mRNA export complex subunits (e.g., THOC1, THOC2, THOC5, THOC6, THOC7) have now been implicated in neurodevelopmental disorders (NDDs), neurodegeneration and cancer. We previously implicated missense and ... -
Update of variants identified in the pancreatic β-cell K ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes
(Wiley, 2020-05)The most common genetic cause of neonatal diabetes and hyperinsulinism is pathogenic variants in ABCC8 and KCNJ11. These genes encode the subunits of the β-cell ATP-sensitive potassium channel, a key component of the ... -
Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389
(Public Library of Science, 2020-02-06)ongenital hyperinsulinism (CHI) is a significant cause of hypoglycaemia in neonates and infants with the potential for permanent neurologic injury. Accurate calculations of the incidence of rare diseases such as CHI are ... -
Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes
(American Diabetes Association, 2020-04)Objective: Heterozygous loss-of-function mutations in HNF1A cause maturity-onset diabetes of the young (MODY). Affected individuals can be treated with low-dose sulfonylureas. Individuals with homozygous HNF1A mutations ... -
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 ...
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