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Article ; Online: Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy.

Al-Maawali, Almundher / Al-Murshedi, Fathiya / Al-Futaisi, Amna / Mansy, Ahmed / Al-Habsi, Asila / Girisha, Katta M

European journal of human genetics : EJHG

2023 Volume 32, Issue 2, Page(s) 243–246

Abstract: Synaptic Vesicle Glycoprotein 2 A (SV2A) is a membrane protein of synaptic vesicles and the binding site of antiepileptic drug levetiracetam. Biallelic Arg383Gln is reported in a family with intractable epilepsy earlier. Here, we report on the second ... ...

Abstract	Synaptic Vesicle Glycoprotein 2 A (SV2A) is a membrane protein of synaptic vesicles and the binding site of antiepileptic drug levetiracetam. Biallelic Arg383Gln is reported in a family with intractable epilepsy earlier. Here, we report on the second family with early onset drug resistant epilepsy. We identified homozygous Arg289Ter variant by exome sequencing that segregated with the phenotype in the family. The affected children in these two families are normal at birth and developed recurrent seizures beginning in the second month of life and developed secondary failure of growth and development. Knock out mice models earlier had replicated the human phenotype observed in these two families. These findings support that biallelic loss of function variants in SV2A result in early onset intractable epilepsy in humans.
MeSH term(s)	Animals ; Child ; Humans ; Mice ; Anticonvulsants/metabolism ; Anticonvulsants/therapeutic use ; Drug Resistant Epilepsy ; Epilepsy/drug therapy ; Epilepsy/genetics ; Glycoproteins/genetics ; Glycoproteins/metabolism ; Synaptic Vesicles/genetics ; Synaptic Vesicles/metabolism
Chemical Substances	Anticonvulsants ; Glycoproteins ; SV2A protein, human (148845-93-6) ; Sv2a protein, mouse
Language	English
Publishing date	2023-11-20
Publishing country	England
Document type	Journal Article
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-023-01493-8
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Zs.A 3589: Show issues

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Article ; Online: Syndrome of Inappropriate Antidiuretic Hormone Secretion in a Patient with Uncontrolled Tyrosinaemia Type 1.

Al-Hinai, Abdulhamid / Al-Murshedi, Fathiya / Al-Nabhani, Dana / Al-Thihli, Khalid

Sultan Qaboos University medical journal

2021 Volume 21, Issue 2, Page(s) e312–e315

Abstract: Syndrome of inappropriate antidiuretic hormone (SIADH) secretion is a recognisable complication of acute porphyria. We report a nine-year-old female patient with hereditary tyrosinaemia type 1 and poor adherence to nitisinone therapy who presented with ... ...

Abstract	Syndrome of inappropriate antidiuretic hormone (SIADH) secretion is a recognisable complication of acute porphyria. We report a nine-year-old female patient with hereditary tyrosinaemia type 1 and poor adherence to nitisinone therapy who presented with acute abdominal pain, vomiting and lethargy at Sultan Qaboos University Hospital, Muscat, Oman in 2016. She subsequently developed generalised tonic-clonic seizures attributable to severe hyponatremia that met the diagnostic criteria of SIADH. The acute porphyria screen also appeared positive. The patient responded well to fluid restriction and was discharged home without immediate neurological sequelae. Although acute porphyria is also a recognised complication of uncontrolled tyrosinaemia type 1, to the best of the authors' knowledge, no patient with tyrosinaemia type 1 has been reported to present with SIADH.
MeSH term(s)	Child ; Female ; Humans ; Hyponatremia/etiology ; Inappropriate ADH Syndrome/complications ; Inappropriate ADH Syndrome/diagnosis ; Oman ; Tyrosinemias/complications ; Tyrosinemias/diagnosis ; Vasopressins
Chemical Substances	Vasopressins (11000-17-2)
Language	English
Publishing date	2021-06-21
Publishing country	Oman
Document type	Case Reports
ZDB-ID	2650196-X
ISSN	2075-0528 ; 2075-0528
ISSN (online)	2075-0528
ISSN	2075-0528
DOI	10.18295/squmj.2021.21.02.023
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Article ; Online: Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency.

Al Shamsi, Bushra / Al Murshedi, Fathiya / Al Habsi, Asila / Al-Thihli, Khalid

European journal of human genetics : EJHG

2021 Volume 30, Issue 8, Page(s) 976–979

Abstract: Mitochondrial flavin adenine dinucleotide (FAD) transporter deficiencies are new entities recently reported to cause a neuro-myopathic phenotype. We report three patients from two unrelated families who presented primarily with hypoketotic hypoglycemia. ... ...

Abstract	Mitochondrial flavin adenine dinucleotide (FAD) transporter deficiencies are new entities recently reported to cause a neuro-myopathic phenotype. We report three patients from two unrelated families who presented primarily with hypoketotic hypoglycemia. They all had acylcarnitine profiles suggestive of multiple acyl-CoA dehydrogenase deficiency (MADD) with negative next-generation sequencing of electron-transfer flavoprotein genes (ETFA, ETFB, and ETFDH). Whole exome sequencing revealed a homozygous c.272 G > T (p.Gly91Val) variant in exon 2 of the SLC25A32 gene. The three patients shared the same variant, and they all demonstrated similar clinical and biochemical improvement with riboflavin supplementation. To date, these are the first patients to be reported with hypoketotic hypoglycemia without the neuromuscular phenotype previously reported in patients with SLC25A32 deficiency.
MeSH term(s)	Electron-Transferring Flavoproteins/genetics ; Electron-Transferring Flavoproteins/metabolism ; Humans ; Hypoglycemia/genetics ; Iron-Sulfur Proteins/genetics ; Membrane Transport Proteins/deficiency ; Membrane Transport Proteins/genetics ; Multiple Acyl Coenzyme A Dehydrogenase Deficiency/genetics ; Mutation ; Oxidoreductases Acting on CH-NH Group Donors/genetics ; Oxidoreductases Acting on CH-NH Group Donors/metabolism ; Riboflavin/metabolism
Chemical Substances	Electron-Transferring Flavoproteins ; Iron-Sulfur Proteins ; Membrane Transport Proteins ; SLC25A32 protein, human ; Oxidoreductases Acting on CH-NH Group Donors (EC 1.5.-) ; Riboflavin (TLM2976OFR)
Language	English
Publishing date	2021-11-12
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-021-00995-7
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Article ; Online: Underdiagnoses resulting from variant misinterpretation: Time for systematic reanalysis of whole exome data?

Al-Murshedi, Fathiya / Meftah, Douja / Scott, Patrick

European journal of medical genetics

2018 Volume 62, Issue 1, Page(s) 39–43

Abstract: Background: Clinical whole exome sequencing (WES) yields a diagnosis in approximately 30% of patients evaluated for presumed genetic disorders. For unsolved cases, periodic reanalysis is usually predicated on the availability of improved bioinformatics ... ...

Abstract	Background: Clinical whole exome sequencing (WES) yields a diagnosis in approximately 30% of patients evaluated for presumed genetic disorders. For unsolved cases, periodic reanalysis is usually predicated on the availability of improved bioinformatics tools or new gene discoveries. Methods: Exome data reanalysis was independently performed on unsolved cases that had underwent trio analysis by an external service provider. The retrieved exome data was reannotated using wANNOVAR and reanalysed following standard filtering criteria. Results: Independent reanalysis led to the identification of a disease-causing variation in two families segregating predominantly a neurological phenotype. As the causative genes were relatively well established at the time the WES referral was made, misinterpretation of the functional impact of the variant and/or underappreciation of the gene's associated phenotype are the most probable causes of the discrepancy in reporting. Conclusion: Non-diagnostic clinical exome resulting from variant misinterpretation is probably under appreciated. These results emphasise the relevance of implement a policy for the reanalysis of high-throughput sequencing data, especially in a clinical context given the implications.
MeSH term(s)	Alleles ; Child ; Child, Preschool ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; False Negative Reactions ; Female ; Genetic Testing/methods ; Genetic Testing/standards ; Humans ; Intracellular Signaling Peptides and Proteins/genetics ; Male ; Membrane Proteins/genetics ; Pedigree ; Phosphoenolpyruvate Carboxykinase (GTP)/genetics ; Whole Exome Sequencing/methods ; Whole Exome Sequencing/standards
Chemical Substances	CLN6 protein, human ; Intracellular Signaling Peptides and Proteins ; Membrane Proteins ; PCK1 protein, human (EC 4.1.1.32) ; Phosphoenolpyruvate Carboxykinase (GTP) (EC 4.1.1.32)
Language	English
Publishing date	2018-04-27
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.2018.04.016
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Article: Revisiting Exome Data Identified Missed Splice Site Variant of the Asparagine Synthetase (

Al-Kasbi, Ghalia / Al-Murshedi, Fathiya / Al-Futaisi, Amna / Al-Jabry, Tariq / Zadjali, Fahad / Al-Yahyaee, Said / Al-Maawali, Almundher

Journal of pediatric genetics

2022 Volume 13, Issue 1, Page(s) 1–5

Abstract: Next-generation sequencing, such as whole-exome sequencing (WES), is increasingly used in the study of Mendelian disorders, yet many are reported as "negative." Inappropriate variant annotation and filtering steps are reasons for missing the molecular ... ...

Abstract	Next-generation sequencing, such as whole-exome sequencing (WES), is increasingly used in the study of Mendelian disorders, yet many are reported as "negative." Inappropriate variant annotation and filtering steps are reasons for missing the molecular diagnosis. Noncoding variants, including splicing mutations, are examples of variants that can be overlooked. Herein, we report a family of four affected newborns, and all presented with severe congenital microcephaly. Initial research WES analysis identified a damaging homozygous variant in
Language	English
Publishing date	2022-10-13
Publishing country	Germany
Document type	Journal Article
ISSN	2146-4596
ISSN	2146-4596
DOI	10.1055/s-0042-1757193
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Article ; Online: Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome.

van Esveld, Selma L / Rodenburg, Richard J / Al-Murshedi, Fathiya / Al-Ajmi, Eiman / Al-Zuhaibi, Sana / Huynen, Martijn A / Spelbrink, Johannes N

Journal of inherited metabolic disease

2022 Volume 45, Issue 2, Page(s) 292–307

Abstract: SUPV3L1 encodes a helicase that is mainly localized in the mitochondria. It has been shown in vitro to possess both double-stranded RNA and DNA unwinding activity that is ATP-dependent. Here we report the first two patients for this gene who presented ... ...

Abstract	SUPV3L1 encodes a helicase that is mainly localized in the mitochondria. It has been shown in vitro to possess both double-stranded RNA and DNA unwinding activity that is ATP-dependent. Here we report the first two patients for this gene who presented with a homozygous preliminary stop codon resulting in a C-terminal truncation of the SUPV3L1 protein. They presented with a characteristic phenotype of neurodegenerative nature with progressive spastic paraparesis, growth restriction, hypopigmentation, and predisposition to autoimmune disease. Ophthalmological examination showed severe photophobia with corneal erosions, optic atrophy, and pigmentary retinopathy, while neuroimaging showed atrophy of the optic chiasm and the pons with calcification of putamina, with intermittent and mild elevation of lactate. We show that the amino acids that are eliminated by the preliminary stop codon are highly conserved and are predicted to form an amphipathic helix. To investigate if the mutation causes mitochondrial dysfunction, we examined fibroblasts of the proband. We observed very low expression of the truncated protein, a reduction in the mature ND6 mRNA species as well as the accumulation of double-stranded RNA. Lentiviral complementation with the full-length SUPV3L1 cDNA partly restored the observed RNA phenotypes, supporting that the SUPV3L1 mutation in these patients is pathogenic and the cause of the disease.
MeSH term(s)	Codon, Terminator ; DEAD-box RNA Helicases/genetics ; DNA, Mitochondrial/genetics ; Humans ; Mutation ; RNA, Double-Stranded ; RNA, Mitochondrial ; Siblings
Chemical Substances	Codon, Terminator ; DNA, Mitochondrial ; RNA, Double-Stranded ; RNA, Mitochondrial ; SUPV3L1 protein, human (EC 3.6.1.-) ; DEAD-box RNA Helicases (EC 3.6.4.13)
Language	English
Publishing date	2022-01-21
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	438341-2
ISSN	1573-2665 ; 0141-8955
ISSN (online)	1573-2665
ISSN	0141-8955
DOI	10.1002/jimd.12476
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Article ; Online: Child With Congenital Generalized Lipodystrophy Type 4 for Electrophysiology Study and Catheter Ablation: Anesthetic Challenges.

Al Aamri, Is'haq / Nagathan, Swaroopa Deepak / Al-Abri, Ismail Abdullah / Al Murshedi, Fathiya Mohammed / Maddali, Madan Mohan

Journal of cardiothoracic and vascular anesthesia

2022 Volume 36, Issue 11, Page(s) 4228–4229

MeSH term(s)	Anesthetics ; Catheter Ablation ; Child ; Electrophysiology ; Humans ; Lipodystrophy, Congenital Generalized
Chemical Substances	Anesthetics
Language	English
Publishing date	2022-07-26
Publishing country	United States
Document type	Letter
ZDB-ID	1067317-9
ISSN	1532-8422 ; 1053-0770
ISSN (online)	1532-8422
ISSN	1053-0770
DOI	10.1053/j.jvca.2022.07.026
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Zs.A 2203: 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)
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Article ; Online: Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families.

Al Busaidi, Marwa / Mohamed, Feda E / Al-Ajmi, Eiman / Al Hashmi, Nadia / Al-Thihli, Khalid / Al Futaisi, Amna / Al Mamari, Watfa / Al-Murshedi, Fathiya / Al-Jasmi, Fatma

Orphanet journal of rare diseases

2023 Volume 18, Issue 1, Page(s) 344

Abstract: Background: In metabolic stress, the cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) enzyme is involved in energy production through the gluconeogenesis pathway. PEPCK-C deficiency is a rare childhood-onset autosomal recessive metabolic disease ... ...

Abstract	Background: In metabolic stress, the cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) enzyme is involved in energy production through the gluconeogenesis pathway. PEPCK-C deficiency is a rare childhood-onset autosomal recessive metabolic disease caused by PCK1 genetic defects. Previous studies showed a broad clinical spectrum ranging from asymptomatic to recurrent hypoglycemia with/without lactic acidosis, encephalopathy, seizures, and liver failure. Results: In this article, we discuss the occurrence of PEPCK-C deficiency in four families from the United Arab Emirates and Oman. All patients presented with unexplained hypoglycemia as a common feature. Two out of the seven patients presented with episodes of encephalopathy that resulted in seizures and neuroregression leading to global developmental delay and one patient had a neonatal presentation. Observed biochemical abnormalities include elevated lactate, transaminases, and tricarboxylic acid cycle metabolites in most patients. Elevated creatine kinase was documented in two patients. Whole exome sequencing revealed two novel (c.574T > C, and c.1268 C > T) and a previously reported splice site (c.961 + 1G > A) PCK1 variant in the affected families. Conclusion: Patients become vulnerable during intercurrent illness; thus, prevention and prompt reversal of a catabolic state are crucial to avoid irreversible brain damage. This report will help to expand the clinical understanding of this rare disease and recommends screening for PEPCK-C deficiency in unexplained hypoglycemia.
MeSH term(s)	Humans ; Infant, Newborn ; Brain Diseases ; Hypoglycemia/etiology ; Intracellular Signaling Peptides and Proteins/genetics ; Liver Diseases/complications ; Phosphoenolpyruvate Carboxykinase (GTP)/genetics ; Seizures/genetics
Chemical Substances	Intracellular Signaling Peptides and Proteins ; PCK1 protein, human (EC 4.1.1.32) ; Phosphoenolpyruvate Carboxykinase (GTP) (EC 4.1.1.32)
Language	English
Publishing date	2023-11-03
Publishing country	England
Document type	Journal Article
ZDB-ID	2225857-7
ISSN	1750-1172 ; 1750-1172
ISSN (online)	1750-1172
ISSN	1750-1172
DOI	10.1186/s13023-023-02946-5
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Article ; Online: Very long-chain acyl-CoA dehydrogenase deficiency and type I diabetes mellitus: Case report and management challenges.

Al-Busaidi, Salim Ahmed / Al Nou'mani, Jawaher Al / Al-Falahi, Zubaida / Al-Farsi, Rajaa / Kumar, Suneel / Al-Murshedi, Fathiya / Awlad-Thani, Kathiya / Al Nabhani, Ayda / Al Alawi, Abdullah M

Clinical biochemistry

2023 Volume 116, Page(s) 16–19

Abstract: Background: Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disorder of fatty acid metabolism. Its clinical presentation includes hypoketotic hypoglycemia and potentially life-threatening multiorgan dysfunction ... ...

Abstract	Background: Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disorder of fatty acid metabolism. Its clinical presentation includes hypoketotic hypoglycemia and potentially life-threatening multiorgan dysfunction.Therefore, the cornerstone of management includes avoiding fasting, dietary modification, and monitoring for complications. The co-occurrence of type 1 diabetes mellitus (DM1) with VLCADD has not been described in the literature. Case report: A 14-year-old male with a known diagnosis of VLCADD presented with vomiting, epigastric pain, hyperglycemia, and high anion gap metabolic acidosis. He was diagnosed with DM1 and managed with insulin therapy while maintaining his high complex carbohydrate, low long-chain fatty acids diet with medium-chain triglyceride supplementation. The primary diagnosis (VLCADD) makes the management of DM1 in this patient challenging as hyperglycemia related to the lack of insulin puts the patient at risk of intracellular glucose depletion and hence increases the risk for major metabolic decompensation.Conversely, adjustment of the dose of insulin requires more attention to avoid hypoglycemia. Both situations represent increased risks compared to managing DM1 alone and need a patient-centred approach, with close follow-up by a multidisciplinary team. Conclusion: We present a novel case of DM1 in a patient with VLCADD. The case describes a general management approach and highlights the challenging aspects of managing a patient with two diseases with different potentially paradoxical life-threatening complications.
MeSH term(s)	Male ; Humans ; Adolescent ; Diabetes Mellitus, Type 1/complications ; Acyl-CoA Dehydrogenase, Long-Chain ; Mitochondrial Diseases/diagnosis ; Hypoglycemia/etiology ; Hyperglycemia ; Insulins/therapeutic use ; Acyl-CoA Dehydrogenase
Chemical Substances	Acyl-CoA Dehydrogenase, Long-Chain (EC 1.3.8.8) ; Insulins ; Acyl-CoA Dehydrogenase (EC 1.3.8.7)
Language	English
Publishing date	2023-03-07
Publishing country	United States
Document type	Case Reports
ZDB-ID	390372-2
ISSN	1873-2933 ; 0009-9120
ISSN (online)	1873-2933
ISSN	0009-9120
DOI	10.1016/j.clinbiochem.2023.03.005
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Zs.A 624: Show issues

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Article: Revisiting Exome Data Identified Missed Splice Site Variant of the Asparagine Synthetase (ASNS) Gene

Al-Kasbi, Ghalia / Al-Murshedi, Fathiya / Al-Futaisi, Amna / Al-Jabry, Tariq / Zadjali, Fahad / Al-Yahyaee, Said / Al-Maawali, Almundher

Journal of Pediatric Genetics

2022 Volume 13, Issue 01, Page(s) 1–5

Abstract: Next-generation sequencing, such as whole-exome sequencing (WES), is increasingly used in the study of Mendelian disorders, yet many are reported as “negative.” Inappropriate variant annotation and filtering steps are reasons for missing the molecular ... ...

Abstract	Next-generation sequencing, such as whole-exome sequencing (WES), is increasingly used in the study of Mendelian disorders, yet many are reported as “negative.” Inappropriate variant annotation and filtering steps are reasons for missing the molecular diagnosis. Noncoding variants, including splicing mutations, are examples of variants that can be overlooked. Herein, we report a family of four affected newborns, and all presented with severe congenital microcephaly. Initial research WES analysis identified a damaging homozygous variant in NME1 gene as a possible cause of primary microcephaly phenotype in these patients. However, reanalysis of the exome data uncovered a biallelic splice site variant in asparagine synthetase gene which seems to be the possible cause of the phenotype in these patients. This study highlights the importance of revisiting the exome data and the issue of “negative” exome and the afterward approaches to identify and prove new candidate genes.
Keywords	whole-exome sequencing ; candidate genes ; microcephaly
Language	English
Publishing date	2022-10-13
Publisher	Georg Thieme Verlag KG
Publishing place	Stuttgart ; New York
Document type	Article
ISSN	2146-460X ; 2146-4596
ISSN (online)	2146-460X
ISSN	2146-4596
DOI	10.1055/s-0042-1757193
Database	Thieme publisher's database

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