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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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 ... -
Pathogenic variants in GPC4 cause Kelpert Syndrome
(Cell Press, 2019-05)Glypicans are a family of cell-surface heparan sulfate proteoglycans that regulate growth-factor signaling during development and are thought to play a role in the regulation of morphogenesis. Whole-exome sequencing of the ... -
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome
(Wiley, 2019-06)Noonan syndrome (NS) is characterised by distinctive facial features, heart defects, variable degrees of intellectual disability and other phenotypic manifestations. Although the mode of inheritance is typically dominant, ... -
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability
(Wiley, 2019-04)DDX3X (Xp11.4) encodes a DEAD-box RNA helicase that escapes X chromosome inactivation. Pathogenic variants in DDX3X have been shown to cause X-linked intellectual disability (ID) (MRX102, MIM: 300958). The phenotypes ... -
Deep phenotyping of fourteen new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype
(Wiley, 2019-01-21)Whole exome sequencing has established IQSEC2 as a neurodevelopmental disability gene. The IQSEC2 variant phenotype includes developmental delay, intellectual disability, epilepsy, hypotonia, autism, developmental regression, ... -
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature
(Wiley, 2019-03)Primrose syndrome is a rare autosomal dominant condition caused by heterozygous missense variants within ZBTB20. Through an exome sequencing approach (as part of the Deciphering Developmental Disorders [DDD] study) we have ... -
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia
(Nature, 2019-01-08)The centrosomal protein 55 kDa (CEP55 (OMIM 610000)) plays a fundamental role in cell cycle regulation and cytokinesis. However, the precise role of CEP55 in human embryonic growth and development is yet to be fully defined. ... -
Response to Prakash et al.
(Nature, 2018-12-21)
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