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Article ; Online: Malformations in the Murine Kidney Caused by Loss of CENP-F Function.

Haley, Chanell O / Waters, Aoife M / Bader, D M

Anatomical record (Hoboken, N.J. : 2007)

2018 Volume 302, Issue 1, Page(s) 163–170

Abstract: Centromere-binding protein F (CENP-F) is a large and complex protein shown to play critical roles in mitosis and various other interphase functions. Previous studies have shown that the disruption of CENP-F function leads to detrimental effects on human ... ...

Abstract	Centromere-binding protein F (CENP-F) is a large and complex protein shown to play critical roles in mitosis and various other interphase functions. Previous studies have shown that the disruption of CENP-F function leads to detrimental effects on human development. Still, it is important to note the lack of studies focusing on the effects that the loss of this essential protein may have on specific adult organs. In the current study, we used a novel global knockout murine model to analyze the potential consequences deletion of CENP-F has on adult kidney structure and function. We discovered several structural abnormalities including loss of ciliary structure, tubule dilation, and disruption of the glomerulus. Along with these structural irregularities, renal dysfunction was also detected suggesting hydronephrosis and acute kidney injury in these knockout organs. Importantly, this is the first study linking CENP-F to kidney disease and hopefully these data will serve as a platform to further investigate the molecular mechanisms disrupted in the kidney by the loss of CENP-F. Anat Rec, 302:163-170, 2019. © 2018 Wiley Periodicals, Inc.
MeSH term(s)	Acute Kidney Injury/etiology ; Acute Kidney Injury/pathology ; Animals ; Centromere ; Chromosomal Proteins, Non-Histone/physiology ; Hydronephrosis/etiology ; Hydronephrosis/pathology ; Kidney/pathology ; Kidney Function Tests ; Mice ; Mice, Knockout ; Microfilament Proteins/physiology ; Tumor Suppressor Proteins/physiology
Chemical Substances	Chromosomal Proteins, Non-Histone ; Microfilament Proteins ; Tg737Rpw protein, mouse ; Tumor Suppressor Proteins ; centromere protein F
Language	English
Publishing date	2018-11-08
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2269667-2
ISSN	1932-8494 ; 1932-8486
ISSN (online)	1932-8494
ISSN	1932-8486
DOI	10.1002/ar.24018
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Article ; Online: First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood.

Alstrup, Morten / Marks, Stephen D / Ek, Jakob / Buchvald, Frederik / Lund, Thomas Kromann / Perch, Michael / Waters, Aoife M / Mogensen, Mette / Jelsig, Anne Marie

European journal of medical genetics

2021 Volume 64, Issue 11, Page(s) 104335

Abstract: Interstitial Lung disease, Nephrotic syndrome and Epidermolysis Bullosa, also referred to as ILNEB syndrome is an extremely rare autosomal recessive condition, caused by pathogenic variants in ITGA3. 11 patients have previously been diagnosed with ILNEB ... ...

Abstract	Interstitial Lung disease, Nephrotic syndrome and Epidermolysis Bullosa, also referred to as ILNEB syndrome is an extremely rare autosomal recessive condition, caused by pathogenic variants in ITGA3. 11 patients have previously been diagnosed with ILNEB syndrome of whom 7 died in infancy or early childhood. We report the only patient with ILNEB syndrome who survived past adolescence, partly due to a double lung transplant. Additionally, our patient showed oral, nasal and gynecological symptoms not previously reported in patients with ILNEB syndrome.
MeSH term(s)	Adolescent ; Epidermolysis Bullosa/genetics ; Epidermolysis Bullosa/pathology ; Female ; Humans ; Integrin alpha3/genetics ; Lung Diseases, Interstitial/genetics ; Lung Diseases, Interstitial/pathology ; Lung Diseases, Interstitial/therapy ; Lung Transplantation ; Mutation ; Nephrosis/genetics ; Nephrosis/pathology ; Nephrotic Syndrome/genetics ; Nephrotic Syndrome/pathology ; Phenotype ; Syndrome
Chemical Substances	ITGA3 protein, human ; Integrin alpha3
Language	English
Publishing date	2021-09-04
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	2184135-4
ISSN	1878-0849 ; 1769-7212
ISSN (online)	1878-0849
ISSN	1769-7212
DOI	10.1016/j.ejmg.2021.104335
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Article ; Online: A small molecule chaperone rescues keratin-8 mediated trafficking of misfolded podocin to correct genetic Nephrotic Syndrome.

Kuzmuk, Valeryia / Pranke, Iwona / Rollason, Ruth / Butler, Matthew / Ding, Wen Y / Beesley, Matthew / Waters, Aoife M / Coward, Richard J / Sessions, Richard / Tuffin, Jack / Foster, Rebecca R / Mollet, Géraldine / Antignac, Corinne / Edelman, Aleksander / Welsh, Gavin I / Saleem, Moin A

Kidney international

2023 Volume 105, Issue 4, Page(s) 744–758

Abstract: Podocin is a key membrane scaffolding protein of the kidney podocyte essential for intact glomerular filtration. Mutations in NPHS2, the podocin-encoding gene, represent the commonest form of inherited nephrotic syndrome (NS), with early, intractable ... ...

Abstract	Podocin is a key membrane scaffolding protein of the kidney podocyte essential for intact glomerular filtration. Mutations in NPHS2, the podocin-encoding gene, represent the commonest form of inherited nephrotic syndrome (NS), with early, intractable kidney failure. The most frequent podocin gene mutation in European children is R138Q, causing retention of the misfolded protein in the endoplasmic reticulum. Here, we provide evidence that podocin R138Q (but not wild-type podocin) complexes with the intermediate filament protein keratin 8 (K8) thereby preventing its correct trafficking to the plasma membrane. We have also identified a small molecule (c407), a compound that corrects the Cystic Fibrosis Transmembrane Conductance Regulator protein defect, that interrupts this complex and rescues mutant protein mistrafficking. This results in both the correct localization of podocin at the plasma membrane and functional rescue in both human patient R138Q mutant podocyte cell lines, and in a mouse inducible knock-in model of the R138Q mutation. Importantly, complete rescue of proteinuria and histological changes was seen when c407 was administered both via osmotic minipumps or delivered orally prior to induction of disease or crucially via osmotic minipump two weeks after disease induction. Thus, our data constitute a therapeutic option for patients with NS bearing a podocin mutation, with implications for other misfolding protein disorders. Further studies are necessary to confirm our findings.
MeSH term(s)	Animals ; Child ; Humans ; Mice ; Intracellular Signaling Peptides and Proteins/genetics ; Keratin-8/genetics ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Molecular Chaperones/genetics ; Mutation ; Nephrotic Syndrome/drug therapy ; Nephrotic Syndrome/genetics ; Nephrotic Syndrome/pathology
Chemical Substances	Intracellular Signaling Peptides and Proteins ; Keratin-8 ; Membrane Proteins ; Molecular Chaperones ; NPHS2 protein ; KRT8 protein, human
Language	English
Publishing date	2023-11-22
Publishing country	United States
Document type	Journal Article
ZDB-ID	120573-0
ISSN	1523-1755 ; 0085-2538
ISSN (online)	1523-1755
ISSN	0085-2538
DOI	10.1016/j.kint.2023.11.006
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Article ; Online: Paediatrics: Long-term effects of Wilms tumour therapy on renal function.

Waters, Aoife M / Pritchard-Jones, Kathy

Nature reviews. Urology

2015 Volume 12, Issue 8, Page(s) 423–424

MeSH term(s)	Female ; Glomerular Filtration Rate ; Humans ; Kidney/physiopathology ; Kidney Neoplasms/physiopathology ; Kidney Neoplasms/surgery ; Male ; Nephrectomy ; Wilms Tumor/physiopathology ; Wilms Tumor/surgery
Language	English
Publishing date	2015-07-14
Publishing country	England
Document type	Journal Article ; Comment
ZDB-ID	2493737-X
ISSN	1759-4820 ; 1759-4812
ISSN (online)	1759-4820
ISSN	1759-4812
DOI	10.1038/nrurol.2015.167
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Article ; Online: Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort.

Wong, Katie / Pitcher, David / Braddon, Fiona / Downward, Lewis / Steenkamp, Retha / Annear, Nicholas / Barratt, Jonathan / Bingham, Coralie / Chrysochou, Constantina / Coward, Richard J / Game, David / Griffin, Sian / Hall, Matt / Johnson, Sally / Kanigicherla, Durga / Karet Frankl, Fiona / Kavanagh, David / Kerecuk, Larissa / Maher, Eamonn R /

Moochhala, Shabbir / Pinney, Jenny / Sayer, John A / Simms, Roslyn / Sinha, Smeeta / Srivastava, Shalabh / Tam, Frederick W K / Turner, Andrew Neil / Walsh, Stephen B / Waters, Aoife / Wilson, Patricia / Wong, Edwin / Taylor, Christopher Mark / Nitsch, Dorothea / Saleem, Moin / Bockenhauer, Detlef / Bramham, Kate / Gale, Daniel P

Lancet (London, England)

2024 Volume 403, Issue 10433, Page(s) 1279–1289

Abstract: ... eGFR of 75 mL/min per 1·73 m: Findings: Between Jan 18, 2010, and July 25, 2022, 27 285 participants ...

Abstract	Background: Individuals with rare kidney diseases account for 5-10% of people with chronic kidney disease, but constitute more than 25% of patients receiving kidney replacement therapy. The National Registry of Rare Kidney Diseases (RaDaR) gathers longitudinal data from patients with these conditions, which we used to study disease progression and outcomes of death and kidney failure. Methods: People aged 0-96 years living with 28 types of rare kidney diseases were recruited from 108 UK renal care facilities. The primary outcomes were cumulative incidence of mortality and kidney failure in individuals with rare kidney diseases, which were calculated and compared with that of unselected patients with chronic kidney disease. Cumulative incidence and Kaplan-Meier survival estimates were calculated for the following outcomes: median age at kidney failure; median age at death; time from start of dialysis to death; and time from diagnosis to estimated glomerular filtration rate (eGFR) thresholds, allowing calculation of time from last eGFR of 75 mL/min per 1·73 m Findings: Between Jan 18, 2010, and July 25, 2022, 27 285 participants were recruited to RaDaR. Median follow-up time from diagnosis was 9·6 years (IQR 5·9-16·7). RaDaR participants had significantly higher 5-year cumulative incidence of kidney failure than 2·81 million UK patients with all-cause chronic kidney disease (28% vs 1%; p<0·0001), but better survival rates (standardised mortality ratio 0·42 [95% CI 0·32-0·52]; p<0·0001). Median age at kidney failure, median age at death, time from start of dialysis to death, time from diagnosis to eGFR thresholds, and therapeutic trial window all varied substantially between rare diseases. Interpretation: Patients with rare kidney diseases differ from the general population of individuals with chronic kidney disease: they have higher 5-year rates of kidney failure but higher survival than other patients with chronic kidney disease stages 3-5, and so are over-represented in the cohort of patients requiring kidney replacement therapy. Addressing unmet therapeutic need for patients with rare kidney diseases could have a large beneficial effect on long-term kidney replacement therapy demand. Funding: RaDaR is funded by the Medical Research Council, Kidney Research UK, Kidney Care UK, and the Polycystic Kidney Disease Charity.
MeSH term(s)	Humans ; Glomerular Filtration Rate ; Kidney ; Kidney Failure, Chronic/epidemiology ; Kidney Failure, Chronic/therapy ; Kidney Failure, Chronic/etiology ; Radar ; Rare Diseases ; Registries ; Renal Insufficiency/epidemiology ; Renal Insufficiency, Chronic/epidemiology ; Renal Insufficiency, Chronic/therapy ; Renal Insufficiency, Chronic/complications ; United Kingdom/epidemiology ; Infant, Newborn ; Infant ; Child, Preschool ; Child ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Aged ; Aged, 80 and over
Language	English
Publishing date	2024-03-13
Publishing country	England
Document type	Journal Article
ZDB-ID	3306-6
ISSN	1474-547X ; 0023-7507 ; 0140-6736
ISSN (online)	1474-547X
ISSN	0023-7507 ; 0140-6736
DOI	10.1016/S0140-6736(23)02843-X
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Article ; Online: Ciliopathies: an expanding disease spectrum.

Waters, Aoife M / Beales, Philip L

Pediatric nephrology (Berlin, Germany)

2011 Volume 26, Issue 7, Page(s) 1039–1056

Abstract: Ciliopathies comprise a group of disorders associated with genetic mutations encoding defective proteins, which result in either abnormal formation or function of cilia. As cilia are a component of almost all vertebrate cells, cilia dysfunction can ... ...

Abstract	Ciliopathies comprise a group of disorders associated with genetic mutations encoding defective proteins, which result in either abnormal formation or function of cilia. As cilia are a component of almost all vertebrate cells, cilia dysfunction can manifest as a constellation of features that include characteristically, retinal degeneration, renal disease and cerebral anomalies. Additional manifestations include congenital fibrocystic diseases of the liver, diabetes, obesity and skeletal dysplasias. Ciliopathic features have been associated with mutations in over 40 genes to date. However, with over 1,000 polypeptides currently identified within the ciliary proteome, several other disorders associated with this constellation of clinical features will likely be ascribed to mutations in other ciliary genes. The mechanisms underlying many of the disease phenotypes associated with ciliary dysfunction have yet to be fully elucidated. Several elegant studies have crucially demonstrated the dynamic ciliary localisation of components of the Hedgehog and Wnt signalling pathways during signal transduction. Given the critical role of the cilium in transducing "outside-in" signals, it is not surprising therefore, that the disease phenotypes consequent to ciliary dysfunction are a manifestation of aberrant signal transduction. Further investigation is now needed to explore the developmental and physiological roles of aberrant signal transduction in the manifestation of ciliopathy phenotypes. Utilisation of conditional and inducible murine models to delete or overexpress individual ciliary genes in a spatiotemporal and organ/cell-specific manner should help clarify some of the functional roles of ciliary proteins in the manifestation of phenotypic features.
MeSH term(s)	Animals ; Cilia/metabolism ; Cilia/pathology ; Ciliary Motility Disorders/genetics ; Ciliary Motility Disorders/metabolism ; Ciliary Motility Disorders/pathology ; Genetic Predisposition to Disease ; Humans ; Kidney Diseases/genetics ; Kidney Diseases/metabolism ; Kidney Diseases/pathology ; Liver Diseases/genetics ; Liver Diseases/metabolism ; Liver Diseases/pathology ; Mutation ; Phenotype ; Retinal Diseases/genetics ; Retinal Diseases/metabolism ; Retinal Diseases/pathology ; Signal Transduction/genetics
Language	English
Publishing date	2011-01-06
Publishing country	Germany
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	631932-4
ISSN	1432-198X ; 0931-041X
ISSN (online)	1432-198X
ISSN	0931-041X
DOI	10.1007/s00467-010-1731-7
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Article ; Online: aHUS caused by complement dysregulation: new therapies on the horizon.

Waters, Aoife M / Licht, Christoph

Pediatric nephrology (Berlin, Germany)

2010 Volume 26, Issue 1, Page(s) 41–57

Abstract: Atypical hemolytic uremic syndrome (aHUS) is a heterogeneous disease that is caused by defective complement regulation in over 50% of cases. Mutations have been identified in genes encoding both complement regulators [complement factor H (CFH), ... ...

Abstract	Atypical hemolytic uremic syndrome (aHUS) is a heterogeneous disease that is caused by defective complement regulation in over 50% of cases. Mutations have been identified in genes encoding both complement regulators [complement factor H (CFH), complement factor I (CFI), complement factor H-related proteins (CFHR), and membrane cofactor protein (MCP)], as well as complement activators [complement factor B (CFB) and C3]. More recently, mutations have also been identified in thrombomodulin (THBD), an anticoagulant glycoprotein that plays a role in the inactivation of C3a and C5a. Inhibitory autoantibodies to CFH account for an additional 5-10% of cases and can occur in isolation or in association with mutations in CFH, CFI, CFHR 1, 3, 4, and MCP. Plasma therapies are considered the mainstay of therapy in aHUS secondary to defective complement regulation and may be administered as plasma infusions or plasma exchange. However, in certain cases, despite initiation of plasma therapy, renal function continues to deteriorate with progression to end-stage renal disease and renal transplantation. Recently, eculizumab, a humanized monoclonal antibody against C5, has been described as an effective therapeutic strategy in the management of refractory aHUS that has failed to respond to plasma therapy. Clinical trials are now underway to further evaluate the efficacy of eculizumab in the management of both plasma-sensitive and plasma-resistant aHUS.
MeSH term(s)	Antibodies, Monoclonal/therapeutic use ; Antibodies, Monoclonal, Humanized ; Atypical Hemolytic Uremic Syndrome ; Complement System Proteins/genetics ; Complement System Proteins/metabolism ; Gene Expression Regulation ; Hemolytic-Uremic Syndrome/etiology ; Hemolytic-Uremic Syndrome/immunology ; Hemolytic-Uremic Syndrome/therapy ; Humans ; Immunologic Factors/therapeutic use ; Kidney Transplantation ; Mutation
Chemical Substances	Antibodies, Monoclonal ; Antibodies, Monoclonal, Humanized ; Immunologic Factors ; Complement System Proteins (9007-36-7) ; eculizumab (A3ULP0F556)
Language	English
Publishing date	2010-06-18
Publishing country	Germany
Document type	Journal Article ; Review
ZDB-ID	631932-4
ISSN	1432-198X ; 0931-041X
ISSN (online)	1432-198X
ISSN	0931-041X
DOI	10.1007/s00467-010-1556-4
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Article ; Online: The CONSENSUS study: protocol for a mixed methods study to establish which outcomes should be included in a core outcome set for oropharyngeal cancer.

Waters, Aoife Mi / Tudur Smith, Catrin / Young, Bridget / Jones, Terry M

Trials

2014 Volume 15, Page(s) 168

Abstract: Background: The incidence of oropharyngeal cancer is increasing in the developed world. This has led to a large rise in research activity and clinical trials in this area, yet there is no consensus on which outcomes should be measured. As a result, the ... ...

Abstract	Background: The incidence of oropharyngeal cancer is increasing in the developed world. This has led to a large rise in research activity and clinical trials in this area, yet there is no consensus on which outcomes should be measured. As a result, the outcomes measured often differ between trials of comparable interventions, making the combination or comparison of results between trials impossible. Outcomes may also be 'cherry-picked', such that favourable results are reported, and less favourable results withheld. The development of a minimum outcome reporting standard, known as a core outcome set, goes some way to addressing these problems. Core outcome sets are ideally developed using a patient-centred approach so that the outcomes measured are relevant to patients and clinical practice. Core outcome sets drive up the quality and relevance of research by ensuring that the right outcomes are consistently measured and reported in trials in specific areas of health or healthcare. Methods/design: This is a mixed methods study involving three phases to develop a core outcome set for oropharyngeal cancer clinical trials. Firstly, a systematic review will establish which outcomes are measured in published oropharyngeal cancer randomised controlled trials (RCTs). Secondly, qualitative interviews with patients and carers in the UK and the USA will aim to establish which outcomes are important to these stakeholders. Data from these first two stages will be used to develop a comprehensive list of outcomes to be considered for inclusion in the core outcome set. In the third stage, patients and clinicians will participate in an iterative consensus exercise known as a Delphi study to refine the contents of the core outcome set. This protocol lays out the methodology to be implemented in the CONSENSUS study. Discussion: A core outcome set defines a minimum outcome reporting standard for clinical trials in a particular area of health or healthcare. Its consistent implementation in oropharyngeal cancer clinical trials will improve the quality and relevance of research. Trials and registration: This study is registered at the National Institute for Health Research (NIHR) Clinical Research Network (CRN) portfolio, ID 13823 (17 January 2013).
MeSH term(s)	Consensus ; Delphi Technique ; Endpoint Determination ; Evidence-Based Medicine ; Humans ; Oropharyngeal Neoplasms/diagnosis ; Oropharyngeal Neoplasms/therapy ; Outcome and Process Assessment, Health Care ; Qualitative Research ; Randomized Controlled Trials as Topic ; Research Design ; Systematic Reviews as Topic ; Treatment Outcome
Language	English
Publishing date	2014-05-13
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2040523-6
ISSN	1745-6215 ; 1468-6694 ; 1468-6708
ISSN (online)	1745-6215 ; 1468-6694
ISSN	1468-6708
DOI	10.1186/1745-6215-15-168
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Article ; Online: Association of Histologic Parameters with Outcome in C3 Glomerulopathy and Idiopathic Immunoglobulin-Associated Membranoproliferative Glomerulonephritis.

Lomax-Browne, Hannah J / Medjeral-Thomas, Nicholas R / Barbour, Sean J / Gisby, Jack / Han, Heedeok / Bomback, Andrew S / Fervenza, Fernando C / Cairns, Thomas H / Szydlo, Richard / Tan, Sven-Jean / Marks, Stephen D / Waters, Aoife M / Appel, Gerald B / D'Agati, Vivette D / Sethi, Sanjeev / Nast, Cynthia C / Bajema, Ingeborg / Alpers, Charles E / Fogo, Agnes B /

Licht, Christoph / Fakhouri, Fadi / Cattran, Daniel C / Peters, James E / Cook, H Terence / Pickering, Matthew C

Clinical journal of the American Society of Nephrology : CJASN

2022 Volume 17, Issue 7, Page(s) 994–1007

Abstract: Background and objectives: C3 glomerulopathy and idiopathic Ig-associated membranoproliferative GN are kidney diseases characterized by abnormal glomerular complement C3 deposition. These conditions are heterogeneous in outcome, but approximately 50% of ...

Abstract	Background and objectives: C3 glomerulopathy and idiopathic Ig-associated membranoproliferative GN are kidney diseases characterized by abnormal glomerular complement C3 deposition. These conditions are heterogeneous in outcome, but approximately 50% of patients develop kidney failure within 10 years. Design, setting, participants, & measurements: To improve identification of patients with poor prognosis, we performed a detailed analysis of percutaneous kidney biopsies in a large cohort of patients. Using a validated histologic scoring system, we analyzed 156 native diagnostic kidney biopsies from a retrospective cohort of 123 patients with C3 glomerulopathy and 33 patients with Ig-associated membranoproliferative GN. We used linear regression, survival analysis, and Cox proportional hazards models to assess the relationship between histologic and clinical parameters with outcome. Results: Frequent biopsy features were mesangial expansion and hypercellularity, glomerular basement membrane double contours, and endocapillary hypercellularity. Multivariable analysis showed negative associations between eGFR and crescents, interstitial inflammation, and interstitial fibrosis/tubular atrophy. Proteinuria positively associated with endocapillary hypercellularity and glomerular basement membrane double contours. Analysis of second native biopsies did not demonstrate associations between immunosuppression treatment and improvement in histology. Using a composite outcome, risk of progression to kidney failure associated with eGFR and proteinuria at the time of biopsy, cellular/fibrocellular crescents, segmental sclerosis, and interstitial fibrosis/tubular atrophy scores. Conclusions: Our detailed assessment of kidney biopsy data indicated that cellular/fibrocellular crescents and interstitial fibrosis/tubular atrophy scores were significant determinants of deterioration in kidney function.
MeSH term(s)	Atrophy ; Biopsy ; Fibrosis ; Glomerulonephritis/diagnosis ; Glomerulonephritis, Membranoproliferative/pathology ; Humans ; Immunoglobulins ; Proteinuria/etiology ; Renal Insufficiency/complications ; Retrospective Studies
Chemical Substances	Immunoglobulins
Language	English
Publishing date	2022-07-01
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2226665-3
ISSN	1555-905X ; 1555-9041
ISSN (online)	1555-905X
ISSN	1555-9041
DOI	10.2215/CJN.16801221
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Article ; Online: TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.

HGG advances

2020 Volume 2, Issue 1

Abstract: The Joubert-Meckel syndrome spectrum is a continuum of recessive ciliopathy conditions caused by primary cilium dysfunction. The primary cilium is a microtubule-based, antenna-like organelle that projects from the surface of most human cell types, ... ...

Abstract	The Joubert-Meckel syndrome spectrum is a continuum of recessive ciliopathy conditions caused by primary cilium dysfunction. The primary cilium is a microtubule-based, antenna-like organelle that projects from the surface of most human cell types, allowing them to respond to extracellular signals. The cilium is partitioned from the cell body by the transition zone, a known hotspot for ciliopathy-related proteins. Despite years of Joubert syndrome (JBTS) gene discovery, the genetic cause cannot be identified in up to 30% of individuals with JBTS, depending on the cohort, sequencing method, and criteria for pathogenic variants. Using exome and targeted sequencing of 655 families with JBTS, we identified three individuals from two families harboring biallelic, rare, predicted-deleterious missense
Language	English
Publishing date	2020-11-21
Publishing country	United States
Document type	Journal Article
ISSN	2666-2477
ISSN (online)	2666-2477
DOI	10.1016/j.xhgg.2020.100016
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