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Article ; Online: Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene.

Matthews, Emma / Whittle, Ella F / Khan, Faraan / McEntagart, Meriel / Carroll, Christopher J

2024

Abstract: Only five children with pathogenic PMPCB gene variants have been described and all carried missense variants. Clinical features included a Leigh-like syndrome of developmental regression, basal ganglia lesions and ataxia with or without dystonia and ... ...

Abstract	Only five children with pathogenic PMPCB gene variants have been described and all carried missense variants. Clinical features included a Leigh-like syndrome of developmental regression, basal ganglia lesions and ataxia with or without dystonia and epilepsy. Three of the five died in childhood and none was older than age six when described. We report the first splice site variant in the PMPCB gene in a 39-year old individual who experienced developmental regression and ataxia following otitis media in childhood. A minigene assay confirms this variant results in aberrant splicing and skipping of exon 12.
Language	English
Publishing date	2024-02-19
Publishing country	England
Document type	Journal Article
ZDB-ID	1425192-9
ISSN	1435-232X ; 1434-5161
ISSN (online)	1435-232X
ISSN	1434-5161
DOI	10.1038/s10038-024-01226-9
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Article ; Online: DCTN1-related Parkinson-plus disorder (Perry syndrome).

Richardson, Daniel / McEntagart, Meriel M / Isaacs, Jeremy D

Practical neurology

2020 Volume 20, Issue 4, Page(s) 317–319

Abstract: Dynactin-1 (DCTN1)-related Parkinson-plus disorder (Perry syndrome) is an autosomal dominant neurodegenerative disorder characterised by levodopa-resistant parkinsonism, weight loss, mood change and central hypoventilation. Ventilatory insufficiency is ... ...

Abstract	Dynactin-1 (DCTN1)-related Parkinson-plus disorder (Perry syndrome) is an autosomal dominant neurodegenerative disorder characterised by levodopa-resistant parkinsonism, weight loss, mood change and central hypoventilation. Ventilatory insufficiency is the predominant cause of death. It has been previously described in 87 people from 20 families with a worldwide distribution. It is now recognised as a distinct TDP-43 proteinopathy caused by a pathological mutation in DCTN1. Its rarity and clinical overlap with other neurodegenerative diseases increase the risk of delayed or incorrect diagnosis. Ventilatory support can improve life expectancy but this depends upon its recognition; overall its prognosis remains poor. We report a patient with DCTN1-related Parkinson-plus disorder, in whom genetic confirmation came only after death.
MeSH term(s)	Cognitive Dysfunction/diagnostic imaging ; Cognitive Dysfunction/etiology ; Cognitive Dysfunction/genetics ; Depression/complications ; Depression/diagnostic imaging ; Depression/genetics ; Dynactin Complex/genetics ; Fatal Outcome ; Female ; Humans ; Hypoventilation/complications ; Hypoventilation/diagnostic imaging ; Hypoventilation/genetics ; Middle Aged ; Parkinsonian Disorders/complications ; Parkinsonian Disorders/diagnostic imaging ; Parkinsonian Disorders/genetics
Chemical Substances	DCTN1 protein, human ; Dynactin Complex
Language	English
Publishing date	2020-05-20
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	2170881-2
ISSN	1474-7766 ; 1474-7758
ISSN (online)	1474-7766
ISSN	1474-7758
DOI	10.1136/practneurol-2020-002505
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Article ; Online: The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum.

Di Feo, Maria Francesca / Lillback, Victoria / Jokela, Manu / McEntagart, Meriel / Homfray, Tessa / Giorgio, Elisa / Casalis Cavalchini, Guido C / Brusco, Alfredo / Iascone, Maria / Spaccini, Luigina / D'Oria, Patrizia / Savarese, Marco / Udd, Bjarne

Journal of medical genetics

2023 Volume 60, Issue 9, Page(s) 866–873

Abstract: Background: Titin truncating variants (TTNtvs) have been associated with several forms of myopathies and/or cardiomyopathies. In homozygosity or in compound heterozygosity, they cause a wide spectrum of recessive phenotypes with a congenital or ... ...

Abstract	Background: Titin truncating variants (TTNtvs) have been associated with several forms of myopathies and/or cardiomyopathies. In homozygosity or in compound heterozygosity, they cause a wide spectrum of recessive phenotypes with a congenital or childhood onset. Most recessive phenotypes showing a congenital or childhood onset have been described in subjects carrying biallelic TTNtv in specific exons. Often karyotype or chromosomal microarray analyses are the only tests performed when prenatal anomalies are identified. Thereby, many cases caused by Methods: We performed a retrospective study analysing an international cohort of 93 published and 10 unpublished cases carrying biallelic TTNtv. Results: We identified recurrent clinical features showing a significant correlation with the genotype, including fetal akinesia (up to 62%), arthrogryposis (up to 85%), facial dysmorphisms (up to 73%), joint (up to 17%), bone (up to 22%) and heart anomalies (up to 27%) resembling complex, syndromic phenotypes. Conclusion: We suggest
MeSH term(s)	Female ; Humans ; Pregnancy ; Abortion, Habitual/genetics ; Connectin/genetics ; Retrospective Studies ; Muscle, Skeletal/abnormalities ; Myocardium
Chemical Substances	Connectin
Language	English
Publishing date	2023-03-28
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmg-2022-109018
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Article ; Online: TRPV4 axonal neuropathy spectrum disorder.

McEntagart, Meriel

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia

2012 Volume 19, Issue 7, Page(s) 927–933

Abstract: The TRPV4-axonal neuropathy spectrum is a group of disorders presenting as a predominantly motor axonal peripheral neuropathy, frequently in association with vocal cord paralysis, and occasionally accompanied by sensorineural hearing loss and bladder ... ...

Abstract	The TRPV4-axonal neuropathy spectrum is a group of disorders presenting as a predominantly motor axonal peripheral neuropathy, frequently in association with vocal cord paralysis, and occasionally accompanied by sensorineural hearing loss and bladder urgency and incontinence. These disorders show autosomal dominant inheritance, variable disease expression and reduced disease penetrance. TRPV4 encodes a calcium-permeable non-selective cation channel of uncertain biological function. Intriguingly, mutations in this gene also underlie a family of autosomal dominant, short-stature skeletal dysplasias. This article reviews the clinical features of the neuropathy spectrum, the emerging neuropathy/skeletal dysplasia overlap disorders and the present knowledge of the impact of mutations in this gene on channel function.
MeSH term(s)	Genetic Association Studies ; Humans ; Models, Molecular ; Mutation/genetics ; Peripheral Nervous System Diseases/complications ; Peripheral Nervous System Diseases/genetics ; Peripheral Nervous System Diseases/pathology ; TRPV Cation Channels/genetics
Chemical Substances	TRPV Cation Channels ; TRPV4 protein, human
Language	English
Publishing date	2012-07
Publishing country	Scotland
Document type	Journal Article ; Review
ZDB-ID	1193674-5
ISSN	1532-2653 ; 0967-5868
ISSN (online)	1532-2653
ISSN	0967-5868
DOI	10.1016/j.jocn.2011.12.003
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Zs.A 3999: Show issues

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Article ; Online: High on-clopidogrel platelet reactivity in ischaemic stroke or transient ischaemic attack: Systematic review and meta-analysis.

Alakbarzade, Vafa / Huang, Xuya / Ster, Irina Chis / McEntagart, Meriel / Pereira, Anthony C

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association

2020 Volume 29, Issue 7, Page(s) 104877

Abstract: Objectives: To assess the prevalence of high on-clopidogrel platelet reactivity (HCPR) in patients with ischaemic stroke or transient ischaemic attack (IS/TIA), their outcome and genetic basis of on-treatment response variability in IS/TIA patients.: ... ...

Abstract	Objectives: To assess the prevalence of high on-clopidogrel platelet reactivity (HCPR) in patients with ischaemic stroke or transient ischaemic attack (IS/TIA), their outcome and genetic basis of on-treatment response variability in IS/TIA patients. Methods: We conducted a comprehensive search of PubMed and EMBASE from their inceptions to March 9, 2019. Studies that reported absolute numbers/percentages of HCRP at any time point after IS/TIA onset evaluated with any type of platelet function tests, clinical outcomes and genotyping data were included. Results: Among 21 studies of 4312 IS/TIA patients treated with clopidogrel, the pooled prevalence of HCPR was 28% (95%CI: 24-32%; high heterogeneity: I Conclusions: This systematic review shows a high prevalence of clopidogrel resistance in IS/TIA and poor outcome in these patients. CYP2C19 polymorphisms may potentially influence clopidogrel resistance.
MeSH term(s)	Blood Platelets/drug effects ; Blood Platelets/metabolism ; Clopidogrel/adverse effects ; Clopidogrel/pharmacokinetics ; Clopidogrel/therapeutic use ; Cytochrome P-450 CYP2C19/genetics ; Cytochrome P-450 CYP2C19/metabolism ; Drug Resistance/genetics ; Humans ; Ischemic Attack, Transient/blood ; Ischemic Attack, Transient/diagnosis ; Ischemic Attack, Transient/drug therapy ; Pharmacogenomic Variants ; Platelet Aggregation/drug effects ; Platelet Aggregation Inhibitors/adverse effects ; Platelet Aggregation Inhibitors/pharmacokinetics ; Platelet Aggregation Inhibitors/therapeutic use ; Polymorphism, Genetic ; Risk Factors ; Stroke/blood ; Stroke/diagnosis ; Stroke/drug therapy ; Treatment Outcome
Chemical Substances	Platelet Aggregation Inhibitors ; Clopidogrel (A74586SNO7) ; CYP2C19 protein, human (EC 1.14.14.1) ; Cytochrome P-450 CYP2C19 (EC 1.14.14.1)
Language	English
Publishing date	2020-05-13
Publishing country	United States
Document type	Journal Article ; Meta-Analysis ; Systematic Review
ZDB-ID	1131675-5
ISSN	1532-8511 ; 1052-3057
ISSN (online)	1532-8511
ISSN	1052-3057
DOI	10.1016/j.jstrokecerebrovasdis.2020.104877
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Zs.A 3519: Show issues

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Article ; Online: Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study.

Alhendi, Ahmed S N / Lim, Derek / McKee, Shane / McEntagart, Meriel / Tatton-Brown, Katriona / Temple, I Karen / Davies, Justin H / Mackay, Deborah J G

Journal of medical genetics

2021 Volume 59, Issue 6, Page(s) 613–622

Abstract: Background: Silver-Russell syndrome (SRS) is an imprinting disorder characterised by prenatal and postnatal growth restriction, but its clinical features are non-specific and its differential diagnosis is broad. Known molecular causes of SRS include ... ...

Abstract	Background: Silver-Russell syndrome (SRS) is an imprinting disorder characterised by prenatal and postnatal growth restriction, but its clinical features are non-specific and its differential diagnosis is broad. Known molecular causes of SRS include imprinting disturbance, single nucleotide variant (SNV), CNV or UPD affecting several genes; however, up to 40% of individuals with a clinical diagnosis of SRS currently receive no positive molecular diagnosis. Methods: To determine whether whole-genome sequencing (WGS) could uncover pathogenic variants missed by current molecular testing, we analysed data of 72 participants recruited to the 100,000 Genomes Project within the clinical category of SRS. Results: In 20 participants (27% of the cohort) we identified genetic variants plausibly accounting for SRS. Coding SNVs were identified in genes including Conclusion: WGS analysis can detect UPD, CNV and SNV and is potentially a valuable addition to diagnosis of SRS and related growth-restricting disorders.
MeSH term(s)	Abnormalities, Multiple/genetics ; DNA Methylation ; Female ; Genomic Imprinting/genetics ; Humans ; Maternal Inheritance ; Pregnancy ; Silver-Russell Syndrome/diagnosis ; Silver-Russell Syndrome/genetics ; Uniparental Disomy
Language	English
Publishing date	2021-06-16
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmedgenet-2021-107699
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Article ; Online: Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation.

Ocansey, Sharon / Pullen, Debbie / Atkinson, Patricia / Clarke, Antonia / Hadonou, Medard / Crosby, Charlene / Short, John / Lloyd, Ian Christopher / Smedley, Damian / Assunta, Albanese / Shah, Pratik / McEntagart, Meriel

Clinical dysmorphology

2021 Volume 31, Issue 1, Page(s) 11–17

Abstract: DNAJC3, a co-chaperone of BiP, is a member of the heat shock protein family. These proteins are produced in the endoplasmic reticulum (ER) to counter cell stress resulting from healthy functional protein processing. Dysregulation of unfolded proteins ... ...

Abstract	DNAJC3, a co-chaperone of BiP, is a member of the heat shock protein family. These proteins are produced in the endoplasmic reticulum (ER) to counter cell stress resulting from healthy functional protein processing. Dysregulation of unfolded proteins within the ER is implicated as a mechanism of genetic disease. Examples include Marinesco-Sjogren and Wolcott-Rallison syndromes that share similar clinical features, manifesting neurodegenerative disease and endocrine dysfunction. Recently, loss of function mutations in DNAJC3 was associated with syndromic diabetes mellitus in three families. The full phenotype included neurodegeneration, ataxia, deafness, neuropathy, adolescent-onset diabetes mellitus, growth hormone deficiency and hypothyroidism. A subsequent report of two unrelated individuals extended the phenotype to include early-onset hyperinsulinaemic hypoglycaemia. Here, we describe two siblings that recapitulate this extended phenotype in association with a homozygous novel mutation in the final exon of DNAJC3 [c.1367_1370delAGAA (p.Lys456SerfsTer85)] resulting in protein elongation predicted to abrogate the functional J domain. This report confirms DNAJC3 as a cause of syndromic congenital hyperinsulinaemic hypoglycaemia. Currently, PanelApp only includes this gene on diabetes mellitus panels. We propose DNAJC3 should be promoted from a red to a green gene on a wider number of panels to improve the diagnosis of this rare condition.
MeSH term(s)	Adolescent ; Child ; Developmental Disabilities ; Diabetes Mellitus, Type 1 ; HSP40 Heat-Shock Proteins/genetics ; Humans ; Insulin ; Mutation ; Neurodegenerative Diseases
Chemical Substances	DNAJC3 protein, human ; HSP40 Heat-Shock Proteins ; Insulin
Language	English
Publishing date	2021-10-22
Publishing country	England
Document type	Journal Article
ZDB-ID	1121482-x
ISSN	1473-5717 ; 0962-8827
ISSN (online)	1473-5717
ISSN	0962-8827
DOI	10.1097/MCD.0000000000000397
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Zs.A 3528: Show issues

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Article ; Online: Decision-making, attitudes, and understanding among patients and relatives invited to undergo genome sequencing in the 100,000 Genomes Project: A multisite survey study.

Sanderson, Saskia C / Lewis, Celine / Hill, Melissa / Peter, Michelle / McEntagart, Meriel / Gale, Daniel / Morris, Huw / Moosajee, Mariya / Searle, Beverly / Hunter, Amy / Patch, Christine / Chitty, Lyn S

Genetics in medicine : official journal of the American College of Medical Genetics

2021 Volume 24, Issue 1, Page(s) 61–74

Abstract: Purpose: The purpose of this study was to assess decisions, attitudes, and understanding of participants (patients, parents, relatives) having genome sequencing for rare disease diagnosis.: Methods: This study involved a cross-sectional observational ...

Abstract	Purpose: The purpose of this study was to assess decisions, attitudes, and understanding of participants (patients, parents, relatives) having genome sequencing for rare disease diagnosis. Methods: This study involved a cross-sectional observational survey with participants in the 100,000 Genomes Project. Results: Survey response rate was 51% (504/978). Most participants self-reported that they had decided to undergo genome sequencing (94%) and that this was an informed decision (84%) with low decisional conflict (95%). Most self-reported that they had chosen to receive additional findings (88%) and that this was an informed decision (89%) with low decisional conflict (95%). Participants were motivated more by the desire to help others via research than by the belief it would help them obtain a diagnosis (Z = 14.23, P = 5.75 × 10 Conclusion: These findings are useful to inform consent guidelines and clinical implementation of genome sequencing.
MeSH term(s)	Attitude ; Cross-Sectional Studies ; Decision Making ; Humans ; Male ; Motivation ; Parents/psychology ; Surveys and Questionnaires
Language	English
Publishing date	2021-11-30
Publishing country	United States
Document type	Journal Article ; Observational Study ; Research Support, Non-U.S. Gov't
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1016/j.gim.2021.08.010
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Article ; Online: Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome.

Wakeling, Emma / McEntagart, Meriel / Bruccoleri, Michael / Shaw-Smith, Charles / Stals, Karen L / Wakeling, Matthew / Barnicoat, Angela / Beesley, Clare / Hanson-Kahn, Andrea K / Kukolich, Mary / Stevenson, David A / Campeau, Philippe M / Ellard, Sian / Elsea, Sarah H / Yang, Xiang-Jiao / Caswell, Richard C

HGG advances

2021 Volume 2, Issue 1, Page(s) 100015

Abstract: Histone deacetylases play crucial roles in the regulation of chromatin structure and gene expression in the eukaryotic cell, and disruption of their activity causes a wide range of developmental disorders in humans. Loss-of-function alleles ... ...

Abstract	Histone deacetylases play crucial roles in the regulation of chromatin structure and gene expression in the eukaryotic cell, and disruption of their activity causes a wide range of developmental disorders in humans. Loss-of-function alleles of
Language	English
Publishing date	2021-01-14
Publishing country	United States
Document type	Journal Article
ISSN	2666-2477
ISSN (online)	2666-2477
DOI	10.1016/j.xhgg.2020.100015
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Article ; Online: Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.

Leonardi, Emanuela / Aspromonte, Maria Cristina / Drongitis, Denise / Bettella, Elisa / Verrillo, Lucia / Polli, Roberta / McEntagart, Meriel / Licchetta, Laura / Dilena, Robertino / D'Arrigo, Stefano / Ciaccio, Claudia / Esposito, Silvia / Leuzzi, Vincenzo / Torella, Annalaura / Baldo, Demetrio / Lonardo, Fortunato / Bonato, Giulia / Pellegrin, Serena / Stanzial, Franco /

Posmyk, Renata / Kaczorowska, Ewa / Carecchio, Miryam / Gos, Monika / Rzońca-Niewczas, Sylwia / Miano, Maria Giuseppina / Murgia, Alessandra

European journal of human genetics : EJHG

2022 Volume 31, Issue 2, Page(s) 202–215

Abstract: Lysine-specific demethylase 5C (KDM5C) has been identified as an important chromatin remodeling gene, contributing to X-linked neurodevelopmental disorders (NDDs). The KDM5C gene, located in the Xp22 chromosomal region, encodes the H3K4me3-me2 eraser ... ...

Abstract	Lysine-specific demethylase 5C (KDM5C) has been identified as an important chromatin remodeling gene, contributing to X-linked neurodevelopmental disorders (NDDs). The KDM5C gene, located in the Xp22 chromosomal region, encodes the H3K4me3-me2 eraser involved in neuronal plasticity and dendritic growth. Here we report 30 individuals carrying 13 novel and one previously identified KDM5C variants. Our cohort includes the first reported case of somatic mosaicism in a male carrying a KDM5C nucleotide substitution, and a dual molecular finding in a female carrying a homozygous truncating FUCA1 alteration together with a de novo KDM5C variant. With the use of next generation sequencing strategies, we detected 1 frameshift, 1 stop codon, 2 splice-site and 10 missense variants, which pathogenic role was carefully investigated by a thorough bioinformatic analysis. The pattern of X-chromosome inactivation was found to have an impact on KDM5C phenotypic expression in females of our cohort. The affected individuals of our case series manifested a neurodevelopmental condition characterized by psychomotor delay, intellectual disability with speech disorders, and behavioral features with particular disturbed sleep pattern; other observed clinical manifestations were short stature, obesity and hypertrichosis. Collectively, these findings expand the current knowledge about the pathogenic mechanisms leading to dysfunction of this important chromatin remodeling gene and contribute to a refinement of the KDM5C phenotypic spectrum.
MeSH term(s)	Humans ; Male ; Female ; Lysine/genetics ; Mutation ; Histone Demethylases/genetics ; Histone Demethylases/metabolism ; Intellectual Disability/genetics ; Chromatin ; Frameshift Mutation
Chemical Substances	Lysine (K3Z4F929H6) ; Histone Demethylases (EC 1.14.11.-) ; Chromatin ; KDM5C protein, human (EC 1.14.11.-)
Language	English
Publishing date	2022-11-25
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-022-01233-4
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