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Article ; Online: TRMT10A

Stern, Eve / Vivante, Asaf / Barel, Ortal / Levy-Shraga, Yael

Journal of clinical research in pediatric endocrinology

2021 Volume 14, Issue 2, Page(s) 227–232

Abstract: A new syndrome of diabetes, short stature, microcephaly and intellectual disability has been described in association with mutations in the tRNA methyltransferase 10 homologue A (TRMT10A) gene. We report a patient who presented with fasting hyperglycemia, ...

Abstract	A new syndrome of diabetes, short stature, microcephaly and intellectual disability has been described in association with mutations in the tRNA methyltransferase 10 homologue A (TRMT10A) gene. We report a patient who presented with fasting hyperglycemia, a raised hemoglobin A1c and positive islet cell autoantibodies. Additional clinical features included intellectual disability, hypoplastic kidneys and short stature. In view of the syndromic features coexistant with diabetes, genetic evaluation was carried out, revealing a homozygous mutation in the TRMT10A gene (c.616G>A, p.G206R). The case highlights the importance of genetic evaluation of patients with diabetes with atypical features that can further progress our understanding of the pathophysiology of the rarer subtypes of diabetes.
MeSH term(s)	Child ; Diabetes Mellitus/genetics ; Dwarfism/complications ; Humans ; Intellectual Disability/complications ; Intellectual Disability/genetics ; Kidney ; Methyltransferases/genetics ; Microcephaly/complications ; Microcephaly/genetics ; Mutation
Chemical Substances	Methyltransferases (EC 2.1.1.-) ; TRMT10A protein, human (EC 2.1.1.-)
Language	English
Publishing date	2021-01-15
Publishing country	Turkey
Document type	Case Reports ; Journal Article
ZDB-ID	2641608-6
ISSN	1308-5735 ; 1308-5727
ISSN (online)	1308-5735
ISSN	1308-5727
DOI	10.4274/jcrpe.galenos.2020.2020.0265
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Zs.A 6942: Show issues

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Article ; Online: A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue.

Kurolap, Alina / Barel, Dalit / Shaul Lotan, Nava / Wexler, Isaiah / Chai Gadot, Chofit / Mory, Adi / Barel, Ortal / Almashanu, Shlomo / Baris Feldman, Hagit

Molecular genetics and metabolism

2023 Volume 140, Issue 3, Page(s) 107702

Abstract: Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by variants in PCCA or PCCB, both sub-units of the propionyl-CoA carboxylase (PCC) enzyme. PCC is required for the catabolism of certain amino acids and odd-chain fatty acids. In ...

Abstract	Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by variants in PCCA or PCCB, both sub-units of the propionyl-CoA carboxylase (PCC) enzyme. PCC is required for the catabolism of certain amino acids and odd-chain fatty acids. In its absence, the accumulated toxic metabolites cause metabolic acidosis, neurologic symptoms, multi-organ dysfunction and possible death. The clinical presentation of PA is highly variable, with typical onset in the neonatal or early infantile period. We encountered two families, whose children were diagnosed with PA. Exome sequencing (ES) failed to identify a pathogenic variant, and we proceeded with genome sequencing (GS), demonstrating homozygosity to a deep intronic PCCB variant. RNA analysis established that this variant creates a pseudoexon with a premature stop codon. The parents are variant carriers, though three of them display pseudo-homozygosity due to a common large benign intronic deletion on the second allele. The parental presumed homozygosity merits special attention, as it masked the causative variant at first, which was resolved only by RNA studies. Arriving at a rapid diagnosis, whether biochemical or genetic, can be crucial in directing lifesaving care, concluding the diagnostic odyssey, and allowing the family prenatal testing in subsequent pregnancies. This study demonstrates the power of integrative genetic studies in reaching a diagnosis, utilizing GS and RNA analysis to overcome ES limitations and define pathogenicity. Importantly, it highlights that intronic deletions should be taken into consideration when analyzing genomic data, so that pseudo-homozygosity would not be misinterpreted as true homozygosity, and pathogenic variants will not be mislabeled as benign.
MeSH term(s)	Infant, Newborn ; Child ; Humans ; Propionic Acidemia/genetics ; RNA ; Methylmalonyl-CoA Decarboxylase/genetics ; Mutation ; Codon, Nonsense
Chemical Substances	RNA (63231-63-0) ; Methylmalonyl-CoA Decarboxylase (EC 7.2.4.3) ; Codon, Nonsense
Language	English
Publishing date	2023-09-26
Publishing country	United States
Document type	Journal Article
ZDB-ID	1418518-0
ISSN	1096-7206 ; 1096-7192
ISSN (online)	1096-7206
ISSN	1096-7192
DOI	10.1016/j.ymgme.2023.107702
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Zs.A 617: Show issues

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Article: Novel

Frizinsky, Shirly / Rechavi, Erez / Barel, Ortal / Lee, Yu Nee / Simon, Amos J / Lev, Atar / Stauber, Tali / Adam, Etai / Somech, Raz

Frontiers in pediatrics

2022 Volume 10, Page(s) 883173

Abstract: Background: During the process of generating diverse T and B cell receptor (TCR and BCR, respectively) repertoires, double-strand DNA breaks are produced. Subsequently, these breaks are corrected by a complex system led by the non-homologous end-joining ...

Abstract	Background: During the process of generating diverse T and B cell receptor (TCR and BCR, respectively) repertoires, double-strand DNA breaks are produced. Subsequently, these breaks are corrected by a complex system led by the non-homologous end-joining (NHEJ). Pathogenic variants in genes involved in this process, such as the Objective: To provide new clinical and immunological insights on NHEJ1 deficiency arising from a newly diagnosed patient with severe immunodeficiency. Materials and methods: A male infant, born to consanguineous parents, suspected of having primary immunodeficiency underwent immunological and genetic workup. This included a thorough assessment of T cell phenotyping and lymphocyte activation by mitogen stimulation tests, whole-exome sequencing (WES), TCR repertoire Vβ repertoire Results: Clinical findings included microcephaly, recurrent pneumonia, and failure to thrive. An immune workup revealed lymphopenia, reduced T cell function, and hypogammaglobulinemia. Skewed TCR Vβ repertoire, TCR gamma (TRG) repertoire, and BCR repertoire were determined in the patient. Genetic analysis identified a novel homozygous missense pathogenic variant in Conclusion: A novel
Language	English
Publishing date	2022-07-27
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2711999-3
ISSN	2296-2360
ISSN	2296-2360
DOI	10.3389/fped.2022.883173
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Article ; Online: Adult-onset Alexander disease among patients of Jewish Syrian descent.

Anis, Saar / Fay-Karmon, Tsvia / Lassman, Simon / Shbat, Fadi / Lesman-Segev, Orit / Mor, Nofar / Barel, Ortal / Dominissini, Dan / Chorin, Odelia / Pras, Elon / Greenbaum, Lior / Hassin-Baer, Sharon

Neurogenetics

2023 Volume 24, Issue 4, Page(s) 303–310

Abstract: Alexander disease (AxD) is a rare autosomal dominant leukodystrophy caused by heterozygous mutations in the glial fibrillary acid protein (GFAP) gene. The age of symptoms onset ranges from infancy to adulthood, with variable clinical and radiological ... ...

Abstract	Alexander disease (AxD) is a rare autosomal dominant leukodystrophy caused by heterozygous mutations in the glial fibrillary acid protein (GFAP) gene. The age of symptoms onset ranges from infancy to adulthood, with variable clinical and radiological manifestations. Adult-onset AxD manifests as a chronic and progressive condition, characterized by bulbar, motor, cerebellar, and other clinical signs and symptoms. Neuroradiological findings typically involve the brainstem and cervical spinal cord. Adult-onset AxD has been described in diverse populations but is rare in Israel. We present a series of patients diagnosed with adult-onset AxD from three families, all of Jewish Syrian descent. Five patients (4 females) were diagnosed with adult-onset AxD due to the heterozygous mutation c.219G > A, p.Met73Ile in GFAP. Age at symptoms onset ranged from 48 to 61 years. Clinical characteristics were typical and involved progressive bulbar and gait disturbance, followed by pyramidal and cerebellar impairment, dysautonomia, and cognitive decline. Imaging findings included medullary and cervical spinal atrophy and mostly infratentorial white matter hyperintensities. A newly recognized cluster of adult-onset AxD in Jews of Syrian origin is presented. This disorder should be considered in differential diagnosis in appropriate circumstances. Genetic counselling for family members is required in order to discuss options for future family planning.
MeSH term(s)	Female ; Humans ; Adult ; Middle Aged ; Alexander Disease/diagnostic imaging ; Alexander Disease/genetics ; Jews/genetics ; Syria ; Glial Fibrillary Acidic Protein/genetics ; Mutation ; Atrophy
Chemical Substances	Glial Fibrillary Acidic Protein
Language	English
Publishing date	2023-09-02
Publishing country	United States
Document type	Journal Article
ZDB-ID	1339887-8
ISSN	1364-6753 ; 1364-6745
ISSN (online)	1364-6753
ISSN	1364-6745
DOI	10.1007/s10048-023-00732-w
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Zs.A 5295: Show issues

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Article ; Online: GATA2 Deficiency in Adult Life Is Characterized by Phenotypic Diversity and Delayed Diagnosis.

Shamriz, Oded / Zahalka, Naseem / Simon, Amos J / Lev, Atar / Barel, Ortal / Mor, Nofar / Tal, Yuval / Segel, Michael J / Somech, Raz / Yonath, Hagith / Toker, Ori

Frontiers in immunology

2022 Volume 13, Page(s) 886117

Abstract: The transcription factor GATA2 plays a key role in the survival and self-renewal of hematopoietic stem and progenitor cells. Autosomal dominant variants ... ...

Abstract	The transcription factor GATA2 plays a key role in the survival and self-renewal of hematopoietic stem and progenitor cells. Autosomal dominant variants in
MeSH term(s)	Bone Marrow ; Delayed Diagnosis ; Female ; GATA2 Deficiency/diagnosis ; GATA2 Deficiency/genetics ; GATA2 Transcription Factor/genetics ; Humans ; Male ; Myelodysplastic Syndromes ; Phenotype
Chemical Substances	GATA2 Transcription Factor ; GATA2 protein, human
Language	English
Publishing date	2022-05-06
Publishing country	Switzerland
Document type	Journal Article ; Multicenter Study
ZDB-ID	2606827-8
ISSN	1664-3224 ; 1664-3224
ISSN (online)	1664-3224
ISSN	1664-3224
DOI	10.3389/fimmu.2022.886117
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Article ; Online: Intellectual disability syndrome associated with a homozygous founder variant in

Journal of medical genetics

2024 Volume 61, Issue 3, Page(s) 289–293

Abstract: Background: Neurodevelopmental disorders (NDDs) impact both the development and functioning of the brain and exhibit clinical and genetic variability. RAP and RAB proteins, belonging to the RAS superfamily, are identified as established contributors to ... ...

Abstract	Background: Neurodevelopmental disorders (NDDs) impact both the development and functioning of the brain and exhibit clinical and genetic variability. RAP and RAB proteins, belonging to the RAS superfamily, are identified as established contributors to NDDs. However, the involvement of SGSM (small G protein signalling modulator), another member of the RAS family, in NDDs has not been previously documented. Methods: Proband-only or trio exome sequencing was performed on DNA samples obtained from affected individuals and available family members. The variant prioritisation process focused on identifying rare deleterious variants. International collaboration aided in the identification of additional affected individuals. Results: We identified 13 patients from 8 families of Ashkenazi Jewish origin who all carried the same homozygous frameshift variant in Conclusions: An Ashkenazi Jewish homozygous founder variant in
MeSH term(s)	Humans ; Intellectual Disability/genetics ; Jews/genetics ; Homozygote ; Syndrome ; Neurodevelopmental Disorders
Language	English
Publishing date	2024-02-21
Publishing country	England
Document type	Journal Article
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmg-2023-109504
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Zs.A 177: Show issues

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Article ; Online: Clinical significance of E148Q heterozygous variant in paediatric familial Mediterranean fever.

Tirosh, Irit / Yacobi, Yonatan / Vivante, Asaf / Barel, Ortal / Ben-Moshe, Yishay / Erez Granat, Ortal / Spielman, Shiri / Semo Oz, Rotem / Shinar, Yael / Gerstein, Maya

Rheumatology (Oxford, England)

2021 Volume 60, Issue 11, Page(s) 5447–5451

Abstract: Objectives: FMF results from mutations in the Mediterranean fever (MEFV) gene. The p. E148Q protein alternation is one of the most frequent in the MEFV gene, yet the exact E148Q genotype-phenotype correlation remains unclear. The aim of this study was ... ...

Abstract	Objectives: FMF results from mutations in the Mediterranean fever (MEFV) gene. The p. E148Q protein alternation is one of the most frequent in the MEFV gene, yet the exact E148Q genotype-phenotype correlation remains unclear. The aim of this study was to examine clinical significance of heterozygous E148Q variant in a paediatric FMF cohort. Methods: We compared the clinical manifestations and disease severity score of four genetic subgroups: (group 1) patients harbouring a single heterozygous p. E148Q variant (n = 6); (group 2) patients harbouring a single p. M694V heterozygous variant (n = 88); (group 3) patients harbouring compound heterozygous p. M694V and p. E148Q variants (n = 36); and (group 4) homozygotes for p. M694V variant (n = 160). Results: Of 646 FMF children from our centre, only 1% (six patients) of our genetically characterized FMF cohort had a single E148Q variant, most presenting with recurrent fevers and abdominal pain. None of the participants was found to harbour homozygous E148Q. Overall, M694V/E148Q compound heterozygosity did not exhibit a more severe phenotype compared with patients with a single M694V variant. The former group were less likely to have abdominal pain and exertional leg pain (P < 0.004 and P < 0.001, respectively) and more likely to have chest pain (P < 0.01). Both subgroups showed milder clinical phenotype compared with patients with M694V homozygosity. Conclusion: Our findings demonstrate that a single heterozygous E148Q variant is unlikely to cause FMF in children and that E148Q/M694V is clinically indistinguishable from a single M694V variant. Thus, E148Q heterozygosity does not result in clinically meaningful phenotype in children.
MeSH term(s)	Amino Acid Substitution ; Child ; Child, Preschool ; Familial Mediterranean Fever/genetics ; Female ; Heterozygote ; Humans ; Male ; Pyrin/genetics ; Retrospective Studies
Chemical Substances	MEFV protein, human ; Pyrin
Language	English
Publishing date	2021-02-18
Publishing country	England
Document type	Journal Article
ZDB-ID	1464822-2
ISSN	1462-0332 ; 1462-0324
ISSN (online)	1462-0332
ISSN	1462-0324
DOI	10.1093/rheumatology/keab128
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Article: Hereditary orotic aciduria identified by newborn screening.

Staretz-Chacham, Orna / Damseh, Nadirah S / Daas, Suha / Abu Salah, Nasser / Anikster, Yair / Barel, Ortal / Dumin, Elena / Fattal-Valevski, Aviva / Falik-Zaccai, Tzipora C / Hershkovitz, Eli / Josefsberg, Sagi / Landau, Yuval / Lerman-Sagie, Tally / Mandel, Hanna / Rock, Rachel / Rostami, Nira / Saraf-Levy, Talya / Shaul Lotan, Nava / Spiegel, Ronen /

Tal, Galit / Ulanovsky, Igor / Wilnai, Yael / Korman, Stanley H / Almashanu, Shlomo

Frontiers in genetics

2023 Volume 14, Page(s) 1135267

Abstract: Introduction: ...

Abstract	Introduction:
Language	English
Publishing date	2023-03-14
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2023.1135267
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Article ; Online: Abdominal muscle weakness as a presenting symptom in GNE myopathy.

Barel, Ortal / Kogan, Elena / Sadeh, Menachem / Kol, Nitzan / Nayschool, Omri / Benninger, Felix

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

2018 Volume 59, Page(s) 316–317

Language	English
Publishing date	2018-11-03
Publishing country	Scotland
Document type	Journal Article
ZDB-ID	1193674-5
ISSN	1532-2653 ; 0967-5868
ISSN (online)	1532-2653
ISSN	0967-5868
DOI	10.1016/j.jocn.2018.10.122
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Zs.A 3999: Show issues

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Article ; Online: Mutations in RASGRP2 gene identified in patients misdiagnosed as Glanzmann thrombasthenia patients.

Rosenberg, Nurit / Dardik, Rima / Hauschner, Hagit / Nakav, Sigal / Barel, Ortal / Luboshitz, Jacob / Yacobovich, Joanne / Tamary, Hannah / Kenet, Gili

Blood cells, molecules & diseases

2021 Volume 89, Page(s) 102560

Abstract: Introduction: Glanzmann thrombasthenia (GT) is a severe inherited platelet function disorder (IPFD), presenting with bleeding diathesis and impaired platelet aggregation, is caused by mutations in the genes ITGA2B or ITGB3.: Aim: We aimed to study ... ...

Abstract	Introduction: Glanzmann thrombasthenia (GT) is a severe inherited platelet function disorder (IPFD), presenting with bleeding diathesis and impaired platelet aggregation, is caused by mutations in the genes ITGA2B or ITGB3. Aim: We aimed to study the genetic cause of IPFD mimicking GT. Methods: During 2017-2019, 16 patients were referred to our tertiary center with bleeding symptoms, impaired platelet aggregation and normal platelet count and size. Results: Using flow cytometry, 13/16 patients were diagnosed with GT, yet three patients displayed normal surface expression of the integrins αIIbβ3 and αvβ3, as well as normal integrin αIIbβ3 activation following incubation with the activating monoclonal antibody anti-LIBS6, while platelet activation following ADP or epinephrine was impaired. Whole exome sequencing detected 2 variants in RASGRP2 gene in all 3 patients. Discussion: Both RASGRP2 mutations predicted frameshift, premature stop codon (p. I427Mfs92 and p. R494Afs54, respectively) and truncated calcium-sensing guanine nucleotide exchange factor [CalDAG-GEFI]- the major signaling molecule that regulates integrin-mediated aggregation and granule secretion, causing IPFD-18. Conclusion: Patients who suffer from bleeding diathesis without immune dysregulation, may be mistakenly diagnosed as GT. Further studies are required to confirm the diagnosis of specific IPFD.
MeSH term(s)	Adult ; Diagnostic Errors ; Female ; Frameshift Mutation ; Guanine Nucleotide Exchange Factors/genetics ; Humans ; Infant ; Male ; Pedigree ; Platelet Aggregation ; Point Mutation ; Thrombasthenia/diagnosis ; Thrombasthenia/genetics ; Whole Exome Sequencing ; Young Adult
Chemical Substances	Guanine Nucleotide Exchange Factors ; RASGRP2 protein, human
Language	English
Publishing date	2021-03-04
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	1237083-6
ISSN	1096-0961 ; 1079-9796
ISSN (online)	1096-0961
ISSN	1079-9796
DOI	10.1016/j.bcmd.2021.102560
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