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Article: Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature.

Lipiński, Patryk / Klaudel-Dreszler, Maja / Ciara, Elzbieta / Jurkiewicz, Dorota / Płoski, Rafał / Cielecka-Kuszyk, Joanna / Socha, Piotr / Jankowska, Irena

Frontiers in pediatrics

2021 Volume 8, Page(s) 616582

Abstract: Introduction: ...

Abstract	Introduction:
Language	English
Publishing date	2021-01-13
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2711999-3
ISSN	2296-2360
ISSN	2296-2360
DOI	10.3389/fped.2020.616582
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Article ; Online: Pathogenic Potential of a PCK1 Gene Variant in Cytosolic PEPCK Deficiency: A Compelling Case Study.

Duś-Żuchowska, Monika / Nowak, Hanna / Kałużny, Łukasz / Rokicki, Dariusz / Ciara, Elżbieta / Piekutowska-Abramczuk, Dorota / Walkowiak, Jarosław

The American journal of case reports

2024 Volume 25, Page(s) e943118

Abstract: BACKGROUND Cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) deficiency is an extremely rare autosomal recessive inherited error of metabolism in which gluconeogenesis is impaired, resulting in life-threatening episodes of hypoglycemia and metabolic ... ...

Abstract	BACKGROUND Cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) deficiency is an extremely rare autosomal recessive inherited error of metabolism in which gluconeogenesis is impaired, resulting in life-threatening episodes of hypoglycemia and metabolic acidosis. The diagnosis of gluconeogenesis disorders is challenging. In the diagnostic pathway, the molecular test plays a paramount role. CASE REPORT The aim of the paper is to present the case report of a girl with recurrent episodes of severe hypoglycemia, in whom molecular diagnosis enabled the confirmation of PEPCK - C deficiency. The patient experienced 4 episodes of severe hypoglycemia. Most of them were accompanied by hyperlacticaemia, metabolic acidosis, and elevated liver enzymes. All of the metabolic decompensations were triggered by infectious agents. The episodes resolved after continuous infusion of high-dose glucose. Due to the recurrent character of the disease, a genetic condition was suspected. The differential diagnosis included metabolic and endocrinological causes of hypoglycemia. Two variants in the PCK1 gene were detected: c.265G>A p.(Glu89Lys) in exon 3 and c.925G>A p.(Gly309Arg) in exon 6. As c.925G>A p.(Gly309Arg) is a known pathogenic variant, the second variant was first described in June 2023 in the ClinVar database and described as "with unknown clinical significance". CONCLUSIONS According to the clinical symptoms observed in the presented case, the variant c.265G>A p.(Glu89Lys) in PCK1 gene should be considered likely pathogenic. We suggest considering molecular diagnostics in every patient presented with recurrent, severe hypoglycemia with accompanying liver damage as most accurate, feasible, and reliable method.
MeSH term(s)	Female ; Humans ; Gluconeogenesis/genetics ; Hypoglycemia/genetics ; Hypoglycemia/etiology ; Intracellular Signaling Peptides and Proteins/genetics ; Phosphoenolpyruvate Carboxykinase (GTP)/deficiency ; Phosphoenolpyruvate Carboxykinase (GTP)/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	2024-04-24
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	2517183-5
ISSN	1941-5923 ; 1941-5923
ISSN (online)	1941-5923
ISSN	1941-5923
DOI	10.12659/AJCR.943118
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Article: DCDC2

Lipiński, Patryk / Ciara, Elżbieta / Jurkiewicz, Dorota / Mekrouda, Magda / Cielecka-Kuszyk, Joanna / Jurkiewicz, Elżbieta / Płoski, Rafał / Pawłowska, Joanna / Jankowska, Irena

Diagnostics (Basel, Switzerland)

2023 Volume 13, Issue 11

Abstract: Introduction: The increasing usage of NGS technology has enabled the discovery of new causal genes in ciliopathies, including the : Material and methods: A retrospective chart review of the clinical, biochemical, pathological (liver histology) and ... ...

Abstract	Introduction: The increasing usage of NGS technology has enabled the discovery of new causal genes in ciliopathies, including the Material and methods: A retrospective chart review of the clinical, biochemical, pathological (liver histology) and molecular features of the study group was performed. The database PubMed (MEDLINE) was searched for relevant studies. Results: All the patients presented with cholestatic jaundice and elevated GGT; the mean age was 2 months. The initial liver biopsy was performed in four children at a mean age of 3 months (age range: 2-5 months). In all of them, features of cholestasis, portal fibrosis and mild portal inflammation were observed; in three of them ductular proliferation was observed. One patient had undergone liver transplantation (LTx) at 8 years of age. At hepatectomy, a biliary-pattern cirrhosis was observed. Only one patient presented with features of renal disease. Whole exome sequencing was performed in all patients at the last follow-up visit (mean age 10 years). Three different variants (one novel) in the Conclusions: Our findings expand the molecular spectrum of pathogenic
Language	English
Publishing date	2023-05-30
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662336-5
ISSN	2075-4418
ISSN	2075-4418
DOI	10.3390/diagnostics13111917
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Article ; Online: DCDC2 -Related Ciliopathy

Patryk Lipiński / Elżbieta Ciara / Dorota Jurkiewicz / Magda Mekrouda / Joanna Cielecka-Kuszyk / Elżbieta Jurkiewicz / Rafał Płoski / Joanna Pawłowska / Irena Jankowska

Diagnostics, Vol 13, Iss 1917, p

Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases

2023 Volume 1917

Abstract: Introduction: The increasing usage of NGS technology has enabled the discovery of new causal genes in ciliopathies, including the DCDC2 gene. The aim of our study was to present the clinical, pathological and molecular report of six patients (from three ... ...

Abstract	Introduction: The increasing usage of NGS technology has enabled the discovery of new causal genes in ciliopathies, including the DCDC2 gene. The aim of our study was to present the clinical, pathological and molecular report of six patients (from three unrelated families) with DCDC2 biallelic pathogenic variants. A detailed overview of the reported patients with DCDC2 -related disease was provided. Material and methods: A retrospective chart review of the clinical, biochemical, pathological (liver histology) and molecular features of the study group was performed. The database PubMed (MEDLINE) was searched for relevant studies. Results: All the patients presented with cholestatic jaundice and elevated GGT; the mean age was 2 months. The initial liver biopsy was performed in four children at a mean age of 3 months (age range: 2–5 months). In all of them, features of cholestasis, portal fibrosis and mild portal inflammation were observed; in three of them ductular proliferation was observed. One patient had undergone liver transplantation (LTx) at 8 years of age. At hepatectomy, a biliary-pattern cirrhosis was observed. Only one patient presented with features of renal disease. Whole exome sequencing was performed in all patients at the last follow-up visit (mean age 10 years). Three different variants (one novel) in the DCDC2 gene were identified in the study group. With our six patients, a total of 34 patients with DCDC2 -related hepatic ciliopathy were identified. The main clinical presentation of DCDC2 -related ciliopathy was liver disease in the form of neonatal sclerosing cholangitis. The predominance of early and severe liver disease associated with no or mildly expressed kidney involvement was observed. Conclusions: Our findings expand the molecular spectrum of pathogenic DCDC2 variants, provide a more accurate picture of the phenotypic expression associated with molecular changes in this gene and confirm a loss of functional behaviour as the mechanism of disease.
Keywords	ciliopathy ; DCDC2 ; cholestasis ; liver transplantation ; next generation sequencing ; Medicine (General) ; R5-920
Subject code	610
Language	English
Publishing date	2023-05-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
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Article ; Online: Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series.

Stepien, Karolina M / Ciara, Elżbieta / Jezela-Stanek, Aleksandra

Genes

2020 Volume 11, Issue 11

Abstract: Fucosidosis is a neurodegenerative disorder which progresses inexorably. Clinical features include coarse facial features, growth retardation, recurrent upper respiratory infections, dysostosis multiplex, and angiokeratoma corporis diffusum. Fucosidosis ... ...

Abstract	Fucosidosis is a neurodegenerative disorder which progresses inexorably. Clinical features include coarse facial features, growth retardation, recurrent upper respiratory infections, dysostosis multiplex, and angiokeratoma corporis diffusum. Fucosidosis is caused by mutations in the
MeSH term(s)	Animals ; Disease Models, Animal ; Enzyme Replacement Therapy ; Fucosidosis/diagnosis ; Fucosidosis/etiology ; Fucosidosis/genetics ; Fucosidosis/therapy ; Genetic Association Studies ; Hematopoietic Stem Cell Transplantation ; Humans ; Molecular Diagnostic Techniques/methods ; Prenatal Diagnosis ; alpha-L-Fucosidase/genetics
Chemical Substances	FUCA1 protein, human ; alpha-L-Fucosidase (EC 3.2.1.51)
Language	English
Publishing date	2020-11-22
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes11111383
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Article ; Online: Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series.

Jezela-Stanek, Aleksandra / Ciara, Elżbieta / Stepien, Karolina M

International journal of molecular sciences

2020 Volume 21, Issue 12

Abstract: Mucolipidosis type IV (MLIV) is an ultra-rare lysosomal storage disorder caused by biallelic mutations ... ...

Abstract	Mucolipidosis type IV (MLIV) is an ultra-rare lysosomal storage disorder caused by biallelic mutations in
MeSH term(s)	Adult ; Female ; Genetic Association Studies ; Genetic Profile ; Humans ; Male ; Mucolipidoses/genetics ; Mucolipidoses/physiopathology ; Mutation ; TRPM Cation Channels/genetics ; Young Adult
Chemical Substances	TRPM Cation Channels
Language	English
Publishing date	2020-06-26
Publishing country	Switzerland
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms21124564
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Article ; Online: Clinical heterogeneity of polish patients with KAT6B-related disorder.

Klaniewska, Magdalena / Bolanowska-Tyszko, Anna / Latos-Bielenska, Anna / Jezela-Stanek, Aleksandra / Szczaluba, Krzysztof / Krajewska-Walasek, Malgorzata / Ciara, Elzbieta / Pelc, Magdalena / Jurkiewicz, Dorota / Stawinski, Piotr / Zubkiewicz-Kucharska, Agnieszka / Rydzanicz, Małgorzata / Ploski, Rafal / Smigiel, Robert

Molecular genetics & genomic medicine

2023 Volume 11, Issue 12, Page(s) e2265

Abstract: Background: Say-Barber-Biesecker-Young-Simpson (SBBYSS) variant of Ohdo syndrome is a rare, autosomal dominant and clinically heterogenous disorder, caused by pathogenic variants in the KAT6B gene located on chromosome 10q22.2. KAT6B encodes a highly ... ...

Abstract	Background: Say-Barber-Biesecker-Young-Simpson (SBBYSS) variant of Ohdo syndrome is a rare, autosomal dominant and clinically heterogenous disorder, caused by pathogenic variants in the KAT6B gene located on chromosome 10q22.2. KAT6B encodes a highly conserved histone acetyltransferase belonging to the MYST family. Currently, diseases caused by pathogenic variants in KAT6B (KAT6B-related disorders) comprise two allelic entities: SBBYSS variant of Ohdo syndrome and genitopatellar syndrome (GPS). Increase in the number of cases with overlapping GPS/SBBYSS phenotype which makes it necessary to redefine this group of phenotypes as KAT6B-related disorders or KAT6B spectrum disorders. Individuals with SBBYSS usually present with facial abnormalities, hypotonia, joint laxity, feeding problems, and long thumbs/great toes. This syndrome also typically involves skeletal problems including patellar hypoplasia/agenesis. Methods: Here we report six SBBYS syndrome patients with the same dysmorphic features but a different course of the disease. One known and five novel KATB6 pathogenic variants were identified by molecular diagnostics using Next Generation Sequencing (NGS). Results: We present a detailed phenotypic analysis of six individuals with KAT6B-related disorders, in whom a heterozygous pathogenic variant in KAT6B gene was found. In all of our patients facial dysmorphism as well as developmental and speech delay were present. Additionally, all but one patients presented with hypotonia, ocular abnormalities and long thumbs. Most of our probands showed blepharophimosis and skeletal (mainly knee) defects. Contrary to previously reported severe patellar defects (hypoplasia/agenesis) anomalies presented by our patients were less severe (dysplasia, habitual dislocation, subluxation) referring to KAT6B-related disorders. Conclusion: While most of the anomalies found in our patients comply with SBBYSS criteria, phenotypic differences in our probands support a broader spectrum of the disease phenotype. To establish the range of this spectrum, a detailed analysis of clinical variability among patients with SBBYSS requires further investigation.
MeSH term(s)	Male ; Humans ; Mutation ; Muscle Hypotonia/genetics ; Poland ; Intellectual Disability/genetics ; Histone Acetyltransferases/genetics
Chemical Substances	KAT6B protein, human (EC 2.3.1.48) ; Histone Acetyltransferases (EC 2.3.1.48)
Language	English
Publishing date	2023-09-01
Publishing country	United States
Document type	Journal Article
ZDB-ID	2734884-2
ISSN	2324-9269 ; 2324-9269
ISSN (online)	2324-9269
ISSN	2324-9269
DOI	10.1002/mgg3.2265
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Article ; Online: Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders.

Senarathne, Udara D / Indika, Neluwa-Liyanage R / Jezela-Stanek, Aleksandra / Ciara, Elżbieta / Frye, Richard E / Chen, Cliff / Stepien, Karolina M

Genes

2023 Volume 14, Issue 4

Abstract: Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders characterized by impaired social interaction, limited communication skills, and restrictive and repetitive behaviours. The pathophysiology of ASD is multifactorial ... ...

Abstract	Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders characterized by impaired social interaction, limited communication skills, and restrictive and repetitive behaviours. The pathophysiology of ASD is multifactorial and includes genetic, epigenetic, and environmental factors, whereas a causal relationship has been described between ASD and inherited metabolic disorders (IMDs). This review describes biochemical, genetic, and clinical approaches to investigating IMDs associated with ASD. The biochemical work-up includes body fluid analysis to confirm general metabolic and/or lysosomal storage diseases, while the advances and applications of genomic testing technology would assist with identifying molecular defects. An IMD is considered likely underlying pathophysiology in ASD patients with suggestive clinical symptoms and multiorgan involvement, of which early recognition and treatment increase their likelihood of achieving optimal care and a better quality of life.
MeSH term(s)	Humans ; Autistic Disorder/genetics ; Quality of Life ; Autism Spectrum Disorder/diagnosis ; Autism Spectrum Disorder/genetics ; Metabolic Diseases/diagnosis ; Metabolic Diseases/genetics ; Neurodevelopmental Disorders
Language	English
Publishing date	2023-03-27
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14040803
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Article ; Online: X-linked myxomatous valvular dystrophy in a patient with a novel mutation in the FLNA gene.

Madej-Pilarczyk, Agnieszka / Piekutowska-Abramczuk, Dorota / Kucińska, Beata / Furmanek, Mariusz / Gwiazda, Anna / Ciara, Elżbieta / Chrzanowska, Krystyna H / Werner, Bożena

Kardiologia polska

2023 Volume 81, Issue 3, Page(s) 306–307

MeSH term(s)	Humans ; Mitral Valve Prolapse ; Genetic Diseases, X-Linked/genetics ; Heart Defects, Congenital ; Mutation ; Filamins/genetics
Chemical Substances	FLNA protein, human ; Filamins
Language	English
Publishing date	2023-01-14
Publishing country	Poland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	411492-9
ISSN	1897-4279 ; 0022-9032
ISSN (online)	1897-4279
ISSN	0022-9032
DOI	10.33963/KP.a2023.0017
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Article ; Online: Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series

Aleksandra Jezela-Stanek / Elżbieta Ciara / Karolina M. Stepien

International Journal of Molecular Sciences, Vol 21, Iss 4564, p

2020 Volume 4564

Abstract: Mucolipidosis type IV (MLIV) is an ultra-rare lysosomal storage disorder caused by biallelic mutations in MCOLN1 gene encoding the transient receptor potential channel mucolipin-1. So far, 35 pathogenic or likely pathogenic MLIV-related variants have ... ...

Abstract	Mucolipidosis type IV (MLIV) is an ultra-rare lysosomal storage disorder caused by biallelic mutations in MCOLN1 gene encoding the transient receptor potential channel mucolipin-1. So far, 35 pathogenic or likely pathogenic MLIV-related variants have been described. Clinical manifestations include severe intellectual disability, speech deficit, progressive visual impairment leading to blindness, and myopathy. The severity of the condition may vary, including less severe psychomotor delay and/or ocular findings. As no striking recognizable facial dysmorphism, skeletal anomalies, organomegaly, or lysosomal enzyme abnormalities in serum are common features of MLIV, the clinical diagnosis may be significantly improved because of characteristic ophthalmological anomalies. This review aims to outline the pathophysiology and genetic defects of this condition with a focus on the genotype–phenotype correlation amongst cases published in the literature. The authors will present their own clinical observations and long-term outcomes in adult MLIV cases.
Keywords	mucolipidosis type IV ; MCOLN1 ; corneal clouding ; gastrin ; myopathy ; neurodegenerative ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
Subject code	610
Language	English
Publishing date	2020-06-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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