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Article: Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel

Lim, Pei Jin / Marcionelli, Giulio / Srikanthan, Pakeerathan / Ndarugendamwo, Timothée / Pinner, Jason / Rohrbach, Marianne / Giunta, Cecilia

Frontiers in endocrinology

2023 Volume 14, Page(s) 1195704

Abstract: Osteogenesis imperfecta (OI) is a heritable and chronically debilitating skeletal dysplasia. Patients with OI typically present with reduced bone mass, tendency for recurrent fractures, short stature and bowing deformities of the long bones. Mutations ... ...

Abstract	Osteogenesis imperfecta (OI) is a heritable and chronically debilitating skeletal dysplasia. Patients with OI typically present with reduced bone mass, tendency for recurrent fractures, short stature and bowing deformities of the long bones. Mutations causative of OI have been identified in over 20 genes involved in collagen folding, posttranslational modification and processing, and in bone mineralization and osteoblast development. In 2016, we described the first X-linked recessive form of OI caused by
MeSH term(s)	Male ; Female ; Pregnancy ; Humans ; Osteogenesis Imperfecta/genetics ; Virulence ; Collagen/genetics ; Lipid Metabolism ; Alopecia ; Metalloendopeptidases
Chemical Substances	Collagen (9007-34-5) ; MBTPS2 protein, human (EC 3.4.24.85) ; Metalloendopeptidases (EC 3.4.24.-)
Language	English
Publishing date	2023-05-25
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2592084-4
ISSN	1664-2392
ISSN	1664-2392
DOI	10.3389/fendo.2023.1195704
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Article ; Online: Congenital Anomalies in Offspring of Maternal Glucokinase-Maturity-Onset Diabetes of the Young: A Case Report.

Rudland, Victoria L / Pinner, Jason / Ross, Glynis P

Diabetes care

2019 Volume 42, Issue 10, Page(s) e162–e163

Language	English
Publishing date	2019-08-15
Publishing country	United States
Document type	Letter
ZDB-ID	441231-x
ISSN	1935-5548 ; 0149-5992
ISSN (online)	1935-5548
ISSN	0149-5992
DOI	10.2337/dc19-0930
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Zs.A 1434: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 365: Show issues

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Article ; Online: Treatment of severe acute necrotizing encephalopathy of childhood with interleukin-6 receptor blockade in the first 24 h as add-on immunotherapy shows favorable long-term outcome at 2 years.

Hosie, Patrick H / Lim, Carylyn / Scott, Timothy R D / Cardamone, Michael / Farrar, Michelle A / Frith, Catherine / Andrews, Peter I / Pinner, Jason / Pillai, Sekhar

Brain & development

2023 Volume 45, Issue 7, Page(s) 401–407

Abstract: Background: Acute necrotizing encephalopathy (ANE) of childhood is a rare and devastating infection-associated acute encephalopathy. While there are no consensus treatments for ANE, recent case reports suggest a beneficial role for the use of ... ...

Abstract	Background: Acute necrotizing encephalopathy (ANE) of childhood is a rare and devastating infection-associated acute encephalopathy. While there are no consensus treatments for ANE, recent case reports suggest a beneficial role for the use of tocilizumab, a recombinant humanized monoclonal antibody against the interleukin-6 (IL-6) receptor. The correlation of the timing of add-on tocilizumab in relation to long-term outcome has not been reported. Methods: We report on the timing of administration of tocilizumab in two patients classified as high-risk using the ANE severity score (ANE-SS) with respect to the long-term outcome at 2 years. Results: Case 1 was a 19-month-old previously well boy who presented to a tertiary children's hospital with seizures, evolving status dystonicus and shock. Case 2 was a three-year-old boy who presented to a peripheral hospital with fever, sepsis and encephalopathy. The patients were transferred to the tertiary intensive care unit and MRI confirmed ANE with extensive brainstem involvement. Case 1 received intravenous immunoglobulin (IVIg), methylprednisolone and tocilizumab at 21, 39 and 53 h respectively. His modified Rankin scale (mRS) at discharge and two years was unchanged at 5. The functional independence measure - for children (WeeFIM) at two years was very low (19/126). Case 2 received dexamethasone at 1 h, methylprednisolone at 21 h and IVIg and tocilizumab at 22 h. The mRS at discharge and two years was 4 and 3 respectively. The WeeFIM score at two years showed substantial improvement (96/126). Conclusion: The very early use of interleukin-6 blockade as 'add-on' immunotherapy in the first 24 h demonstrates potential for improving the long-term outcome in patients classified as high-risk using the ANE-SS.
MeSH term(s)	Male ; Child ; Humans ; Child, Preschool ; Infant ; Interleukin-6 ; Immunoglobulins, Intravenous/therapeutic use ; Brain Diseases ; Immunotherapy ; Methylprednisolone ; Receptors, Interleukin-6
Chemical Substances	Interleukin-6 ; Immunoglobulins, Intravenous ; Methylprednisolone (X4W7ZR7023) ; Receptors, Interleukin-6
Language	English
Publishing date	2023-03-24
Publishing country	Netherlands
Document type	Case Reports
ZDB-ID	604822-5
ISSN	1872-7131 ; 0387-7604
ISSN (online)	1872-7131
ISSN	0387-7604
DOI	10.1016/j.braindev.2023.03.002
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Zs.A 1788: Show issues

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Article ; Online: A rare cause of ductopenia: adult onset Alagille syndrome.

Ansar, Sameera / Tran, Kim / Pinner, Jason / Majumdar, Avik / McKenzie, Catriona

Pathology

2020 Volume 52, Issue 5, Page(s) 610–612

MeSH term(s)	Adult ; Alagille Syndrome ; Humans ; Jagged-1 Protein ; Mutation
Chemical Substances	JAG1 protein, human ; Jagged-1 Protein
Language	English
Publishing date	2020-07-02
Publishing country	England
Document type	Letter ; Comment
ZDB-ID	7085-3
ISSN	1465-3931 ; 0031-3025
ISSN (online)	1465-3931
ISSN	0031-3025
DOI	10.1016/j.pathol.2020.04.015
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Zs.A 723: Show issues

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Article ; Online: Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing.

Evans, Carey-Anne / Pinner, Jason / Chan, Cheng Y / Bowyer, Lucy / Mowat, David / Buckley, Michael F / Roscioli, Tony

American journal of medical genetics. Part A

2019 Volume 179, Issue 10, Page(s) 2152–2157

Abstract: Mowat-Wilson syndrome (MWS) is a complex genetic disorder associated with heterozygous variation in ZEB2. It is mainly characterized by moderate-to-severe intellectual disability, facial dysmorphism, epilepsy, and various malformations including ... ...

Abstract	Mowat-Wilson syndrome (MWS) is a complex genetic disorder associated with heterozygous variation in ZEB2. It is mainly characterized by moderate-to-severe intellectual disability, facial dysmorphism, epilepsy, and various malformations including Hirschsprung disease, corpus callosum anomalies, and congenital heart defects. It is rarely diagnosed prenatally and there is limited information available on the prenatal phenotype associated with MWS. Here we report the detection of a heterozygous de novo nonsense variant in ZEB2 by whole exome sequencing in a fetus with microphthalmia in addition to cardiac defects and typical MWS facial dysmorphism. As the prenatal phenotypic spectrum of MWS expands, the routine addition of fetal genomic testing particularly in the presence of multiple malformations will increase both the sensitivity and specificity of prenatal diagnostics.
MeSH term(s)	Facies ; Female ; Fetus/abnormalities ; Hirschsprung Disease/diagnosis ; Hirschsprung Disease/genetics ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Male ; Microcephaly/diagnosis ; Microcephaly/genetics ; Pregnancy ; Prenatal Diagnosis ; Whole Exome Sequencing
Language	English
Publishing date	2019-07-19
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1493479-6
ISSN	1552-4833 ; 1552-4825
ISSN (online)	1552-4833
ISSN	1552-4825
DOI	10.1002/ajmg.a.61295
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Article ; Online: Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level.

Best, Stephanie / Brown, Helen / Lunke, Sebastian / Patel, Chirag / Pinner, Jason / Barnett, Christopher P / Wilson, Meredith / Sandaradura, Sarah A / McClaren, Belinda / Brett, Gemma R / Braithwaite, Jeffrey / Stark, Zornitza

NPJ genomic medicine

2021 Volume 6, Issue 1, Page(s) 5

Abstract: In scaling up an ultra-rapid genomics program, we used implementation science principles to design and investigate influences on implementation and identify strategies required for sustainable "real-world" services. Interviews with key professionals ... ...

Abstract	In scaling up an ultra-rapid genomics program, we used implementation science principles to design and investigate influences on implementation and identify strategies required for sustainable "real-world" services. Interviews with key professionals revealed the importance of networks and relationship building, leadership, culture, and the relative advantage afforded by ultra-rapid genomics in the care of critically ill children. Although clinical geneticists focused on intervention characteristics and the fit with patient-centered care, intensivists emphasized the importance of access to knowledge, in particular from clinical geneticists. The relative advantage of ultra-rapid genomics and trust in consistent and transparent delivery were significant in creating engagement at initial implementation, with appropriate resourcing highlighted as important for longer term sustainability of implementation. Our findings demonstrate where common approaches can be used and, significantly, where there is a need to tailor support by professional role and implementation phase, to maximize the potential of ultra-rapid genomic testing to improve patient care.
Language	English
Publishing date	2021-01-28
Publishing country	England
Document type	Journal Article
ZDB-ID	2813848-X
ISSN	2056-7944 ; 2056-7944
ISSN (online)	2056-7944
ISSN	2056-7944
DOI	10.1038/s41525-020-00168-3
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Article ; Online: Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.

American journal of medical genetics. Part C, Seminars in medical genetics

2023 Volume 193, Issue 3, Page(s) e32056

Abstract: Heterozygous ARID1B variants result in Coffin-Siris syndrome. Features may include hypoplastic nails, slow growth, characteristic facial features, hypotonia, hypertrichosis, and sparse scalp hair. Most reported cases are due to ARID1B loss of function ... ...

Abstract	Heterozygous ARID1B variants result in Coffin-Siris syndrome. Features may include hypoplastic nails, slow growth, characteristic facial features, hypotonia, hypertrichosis, and sparse scalp hair. Most reported cases are due to ARID1B loss of function variants. We report a boy with developmental delay, feeding difficulties, aspiration, recurrent respiratory infections, slow growth, and hypotonia without a clinical diagnosis, where a previously unreported ARID1B missense variant was classified as a variant of uncertain significance. The pathogenicity of this variant was refined through combined methodologies including genome-wide methylation signature analysis (EpiSign), Machine Learning (ML) facial phenotyping, and LIRICAL. Trio exome sequencing and EpiSign were performed. ML facial phenotyping compared facial images using FaceMatch and GestaltMatcher to syndrome-specific libraries to prioritize the trio exome bioinformatic pipeline gene list output. Phenotype-driven variant prioritization was performed with LIRICAL. A de novo heterozygous missense variant, ARID1B p.(Tyr1268His), was reported as a variant of uncertain significance. The ACMG classification was refined to likely pathogenic by a supportive methylation signature, ML facial phenotyping, and prioritization through LIRICAL. The ARID1B genotype-phenotype has been expanded through an extended analysis of missense variation through genome-wide methylation signatures, ML facial phenotyping, and likelihood-ratio gene prioritization.
MeSH term(s)	Male ; Humans ; DNA-Binding Proteins/genetics ; Muscle Hypotonia/pathology ; Transcription Factors/genetics ; Face/pathology ; Abnormalities, Multiple/diagnosis ; Micrognathism/genetics ; Intellectual Disability/pathology ; Hand Deformities, Congenital/genetics ; Neck/pathology
Chemical Substances	DNA-Binding Proteins ; Transcription Factors ; ARID1B protein, human
Language	English
Publishing date	2023-08-31
Publishing country	United States
Document type	Case Reports ; Research Support, Non-U.S. Gov't
ZDB-ID	2108622-9
ISSN	1552-4876 ; 0148-7299 ; 1552-4868
ISSN (online)	1552-4876
ISSN	0148-7299 ; 1552-4868
DOI	10.1002/ajmg.c.32056
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Zs.A 1376/C: Show issues

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Article ; Online: WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.

Oliver, Karen L / Trivisano, Marina / Mandelstam, Simone A / De Dominicis, Angela / Francis, David I / Green, Timothy E / Muir, Alison M / Chowdhary, Apoorva / Hertzberg, Christoph / Goldhahn, Klaus / Metreau, Julia / Prager, Christine / Pinner, Jason / Cardamone, Michael / Myers, Kenneth A / Leventer, Richard J / Lesca, Gaetan / Bahlo, Melanie / Hildebrand, Michael S /

Mefford, Heather C / Kaindl, Angela M / Specchio, Nicola / Scheffer, Ingrid E

Epilepsia

2023 Volume 64, Issue 5, Page(s) 1351–1367

Abstract: Objective: WWOX is an autosomal recessive cause of early infantile developmental and epileptic encephalopathy (WWOX-DEE), also known as WOREE (WWOX-related epileptic encephalopathy). We analyzed the epileptology and imaging features of WWOX-DEE, and ... ...

Abstract	Objective: WWOX is an autosomal recessive cause of early infantile developmental and epileptic encephalopathy (WWOX-DEE), also known as WOREE (WWOX-related epileptic encephalopathy). We analyzed the epileptology and imaging features of WWOX-DEE, and investigated genotype-phenotype correlations, particularly with regard to survival. Methods: We studied 13 patients from 12 families with WWOX-DEE. Information regarding seizure semiology, comorbidities, facial dysmorphisms, and disease outcome were collected. Electroencephalographic (EEG) and brain magnetic resonance imaging (MRI) data were analyzed. Pathogenic WWOX variants from our cohort and the literature were coded as either null or missense, allowing individuals to be classified into one of three genotype classes: (1) null/null, (2) null/missense, (3) missense/missense. Differences in survival outcome were estimated using the Kaplan-Meier method. Results: All patients experienced multiple seizure types (median onset = 5 weeks, range = 1 day-10 months), the most frequent being focal (85%), epileptic spasms (77%), and tonic seizures (69%). Ictal EEG recordings in six of 13 patients showed tonic (n = 5), myoclonic (n = 2), epileptic spasms (n = 2), focal (n = 1), and migrating focal (n = 1) seizures. Interictal EEGs demonstrated slow background activity with multifocal discharges, predominantly over frontal or temporo-occipital regions. Eleven of 13 patients had a movement disorder, most frequently dystonia. Brain MRIs revealed severe frontotemporal, hippocampal, and optic atrophy, thin corpus callosum, and white matter signal abnormalities. Pathogenic variants were located throughout WWOX and comprised both missense and null changes including five copy number variants (four deletions, one duplication). Survival analyses showed that patients with two null variants are at higher mortality risk (p-value = .0085, log-rank test). Significance: Biallelic WWOX pathogenic variants cause an early infantile developmental and epileptic encephalopathy syndrome. The most common seizure types are focal seizures and epileptic spasms. Mortality risk is associated with mutation type; patients with biallelic null WWOX pathogenic variants have significantly lower survival probability compared to those carrying at least one presumed hypomorphic missense pathogenic variant.
MeSH term(s)	Humans ; Brain Diseases/genetics ; Spasms, Infantile/diagnostic imaging ; Spasms, Infantile/genetics ; Spasms, Infantile/complications ; Seizures/diagnostic imaging ; Seizures/genetics ; Seizures/complications ; Brain/pathology ; Epileptic Syndromes/complications ; Electroencephalography ; Spasm ; WW Domain-Containing Oxidoreductase/genetics ; WW Domain-Containing Oxidoreductase/metabolism ; Tumor Suppressor Proteins/genetics ; Tumor Suppressor Proteins/metabolism
Chemical Substances	WWOX protein, human (EC 1.1.1.-) ; WW Domain-Containing Oxidoreductase (EC 1.1.1.-) ; Tumor Suppressor Proteins
Language	English
Publishing date	2023-03-11
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	216382-2
ISSN	1528-1167 ; 0013-9580
ISSN (online)	1528-1167
ISSN	0013-9580
DOI	10.1111/epi.17542
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Zs.A 517: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 475: Show issues

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Article ; Online: Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome.

Biggin, Andrew / Enriquez, Annabelle / Wong, Melanie / Bennetts, Bruce / Lau, Chiyan / Chan, Cheng Yee / Pinner, Jason / Adelstein, Stephen / Adès, Lesley C

Journal of clinical immunology

2018 Volume 38, Issue 3, Page(s) 234–236

MeSH term(s)	Adolescent ; Biomarkers ; Biopsy ; Combined Modality Therapy ; Fatal Outcome ; Female ; Humans ; Immunoglobulins, Intravenous/therapeutic use ; Immunosuppressive Agents/therapeutic use ; Liver Function Tests ; Loeys-Dietz Syndrome/complications ; Loeys-Dietz Syndrome/diagnosis ; Lymphohistiocytosis, Hemophagocytic/complications ; Lymphohistiocytosis, Hemophagocytic/diagnosis ; Lymphohistiocytosis, Hemophagocytic/therapy ; Positron Emission Tomography Computed Tomography
Chemical Substances	Biomarkers ; Immunoglobulins, Intravenous ; Immunosuppressive Agents
Language	English
Publishing date	2018-03-09
Publishing country	Netherlands
Document type	Case Reports ; Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	779361-3
ISSN	1573-2592 ; 0271-9142
ISSN (online)	1573-2592
ISSN	0271-9142
DOI	10.1007/s10875-018-0484-0
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Zs.A 1640: Show issues

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Article ; Online: Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.

Byrne, Alicia B / Arts, Peer / Ha, Thuong T / Kassahn, Karin S / Pais, Lynn S / O'Donnell-Luria, Anne / Babic, Milena / Frank, Mahalia S B / Feng, Jinghua / Wang, Paul / Lawrence, David M / Eshraghi, Leila / Arriola, Luis / Toubia, John / Nguyen, Hung / McGillivray, George / Pinner, Jason / McKenzie, Fiona / Morrow, Rebecca /

Lipsett, Jill / Manton, Nick / Khong, T Yee / Moore, Lynette / Liebelt, Jan E / Schreiber, Andreas W / King-Smith, Sarah L / Hardy, Tristan S E / Jackson, Matilda R / Barnett, Christopher P / Scott, Hamish S

Nature medicine

2023 Volume 30, Issue 1, Page(s) 302

Language	English
Publishing date	2023-07-10
Publishing country	United States
Document type	Published Erratum
ZDB-ID	1220066-9
ISSN	1546-170X ; 1078-8956
ISSN (online)	1546-170X
ISSN	1078-8956
DOI	10.1038/s41591-023-02487-1
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Zs.A 4212: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MG 39: Show issues

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