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Congenital disorders of glycosylation

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https://www.readbyqxmd.com/read/29759592/ccdc115-cdg-a-new-rare-and-misleading-inherited-cause-of-liver-disease
#1
Muriel Girard, Aurélia Poujois, Monique Fabre, Florence Lacaille, Dominique Debray, Marlène Rio, François Fenaille, Sophie Cholet, Coralie Ruel, Elizabeth Caussé, Janick Selves, Laure Bridoux-Henno, France Woimant, Thierry Dupré, Sandrine Vuillaumier-Barrot, Nathalie Seta, Laurent Alric, Pascale de Lonlay, Arnaud Bruneel
Congenital disorders of glycosylation (CDG) linked to defects in Golgi apparatus homeostasis constitute an increasing part of these rare inherited diseases. Among them, COG-CDG, ATP6V0A2-CDG, TMEM199-CDG and CCDC115-CDG have been shown to disturb Golgi vesicular trafficking and/or lumen pH acidification. Here, we report 3 new unrelated cases of CCDC115-CDG with emphasis on diagnosis difficulties related to strong phenotypic similarities with mitochondriopathies, Niemann-Pick disease C and Wilson Disease. Indeed, while two individuals clinically presented with early and severe liver fibrosis and cirrhosis associated with neurological symptoms, the other one "only" showed isolated and late severe liver involvement...
May 9, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29752652/disruption-of-the-responsible-gene-in-a-phosphoglucomutase-1-deficiency-patient-by-homozygous-chromosomal-inversion
#2
Katsuyuki Yokoi, Yoko Nakajima, Tamae Ohye, Hidehito Inagaki, Yoshinao Wada, Tokiko Fukuda, Hideo Sugie, Isao Yuasa, Tetsuya Ito, Hiroki Kurahashi
Phosphoglucomutase 1 (PGM1) deficiency is a recently defined disease characterized by glycogenosis and a congenital glycosylation disorder caused by recessive mutations in the PGM1 gene. We report a case of a 12-year-old boy with first-cousin parents who was diagnosed with a PGM1 deficiency due to significantly decreased PGM1 activity in his muscle. However, Sanger sequencing revealed no pathogenic mutation in the PGM1 gene in this patient. As this case presented with a cleft palate in addition to hypoglycemia and elevated transaminases and creatine kinase, karyotyping was performed and identified homozygous inv(1)(p31...
May 12, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29750770/genetic-characteristics-of-patients-with-congenital-hyperinsulinism
#3
Mary Ellen Vajravelu, Diva D De León
PURPOSE OF REVIEW: Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in infants and children. Early and appropriate recognition and treatment of hypoglycemia is vital to minimize neurocognitive impairment. RECENT FINDINGS: There are at least 11 known monogenic forms of hyperinsulinism and several associated syndromes. Molecular diagnosis allows for prediction of the effectiveness of diazoxide and the likelihood of focal hyperinsulinism...
May 9, 2018: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29721919/severe-ichthyosis-in-mpdu1-cdg
#4
Christian Thiel, Saskia Wortmann, Korbinian Riedhammer, Bader Alhaddad, Ertan Mayatepek, Holger Prokisch, Felix Distelmaier
Congenital disorders of glycosylation (CDG) have a broad spectrum of clinical manifestations. They can affect multiple organ systems, including skin and subcutaneous tissue. We report on an infant with severe ichthyosis caused by MPDU1 mutations. The case illustrates that skin manifestations are an important feature of CDG syndromes. Therefore, metabolic investigations should be included in the workup of infantile ichthyosis disorders.
May 2, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29709711/compound-heterozygous-variants-of-the-cog6-gene-in-a-chinese-patient-with-deficiency-of-subunit-6-of-the-conserved-oligomeric-golgi-complex-cog6-cdg
#5
Guoqiang Li, Yufei Xu, Xuyun Hu, Niu Li, Ruen Yao, Tingting Yu, Xiumin Wang, Weiwei Guo, Jian Wang
COG6-CDG is a rare autosomal recessive disease of congenital disorders of glycosylation (CDG) caused by deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6), which is characterized by growth retardation, developmental disability, microcephaly, liver and gastrointestinal disease, recurrent infections and hypohidrosis/hyperthermia. Only eight mutations causing COG6 deficiencies have been described since the first report in 2010. Here, we report the first Chinese patient with COG6-CDG. Utilizing targeted next generation sequencing and Sanger sequencing, we detected compound heterozygous variants (c...
April 27, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29702557/cdg-therapies-from-bench-to-bedside
#6
REVIEW
Sandra Brasil, Carlota Pascoal, Rita Francisco, Dorinda Marques-da-Silva, Giuseppina Andreotti, Paula A Videira, Eva Morava, Jaak Jaeken, Vanessa Dos Reis Ferreira
Congenital disorders of glycosylation (CDG) are a group of genetic disorders that affect protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. More than 100 different disorders have been reported and the number is rapidly increasing. Since glycosylation is an essential post-translational process, patients present a large range of symptoms and variable phenotypes, from very mild to extremely severe. Only for few CDG, potentially curative therapies are being used, including dietary supplementation (e...
April 27, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29701302/high-resolution-capillary-zone-electrophoresis-for-transferrin-glycoform-analysis-associated-with-congenital-disorders-of-glycosylation
#7
Micha Tobler, Jitka Caslavska, Patricie Burda, Wolfgang Thormann
High-resolution capillary zone electrophoresis is used to assess the transferrin profile in serum of patients with eight different congenital disorders of glycosylation that represent type I, type II and mixed type I/II disorders. Capillary zone electrophoresis data are compared to patterns obtained by gel isoelectric focusing. The high-resolution capillary zone electrophoresis method is shown to represent an effective tool to assess the diversity of transferrin patterns. Hypoglycosylated disialo-, monosialo- and asialo-transferrin in type I cases can be distinguished from the corresponding underdesialylated transferrin glycoforms present in type II disorders...
April 27, 2018: Journal of Separation Science
https://www.readbyqxmd.com/read/29681618/clinical-utility-gene-card-for-galnt3-defective-congenital-disorder-of-glycosylation
#8
Jaak Jaeken, Dirk J Lefeber, Gert Matthijs
No abstract text is available yet for this article.
April 23, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29623892/deep-venous-thrombosis-treated-by-rivaroxaban-in-a-young-patient-with-type-ia-carbohydrate-deficient-glycoprotein-cdg-syndrome
#9
Bertrand Lefrère, Alain Stepanian, Nathalie Itzhar-Baïkian, Perrine Charles, Arezki Hadj-Ali, Bérangère Joly, Martine Alhenc-Gelas, Ludovic Drouet, Agnès Veyradier, Virginie Siguret
Congenital disorders of glycosylation (CDG) are rare inborn diseases of glycan component of N-glycosylated proteins. We report here the case of a 28-year-old patient with CDG syndrome type Ia, who presented with a deep venous thrombosis in the left suro-popliteal vein with no known triggers or antecedents. The patient was treated with rivaroxaban for six months. Blood tests performed after discontinuing anticoagulant treatment showed multiple abnormalities affecting the proteins involved in haemostasis (both coagulation factors and inhibitors), i...
April 1, 2018: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/29606283/perspectives-on-glycosylation-and-its-congenital-disorders
#10
REVIEW
Bobby G Ng, Hudson H Freeze
Congenital disorders of glycosylation (CDG) are a rapidly expanding group of metabolic disorders that result from abnormal protein or lipid glycosylation. They are often difficult to clinically diagnose because they broadly affect many organs and functions and lack clinical uniformity. However, recent technological advances in next-generation sequencing have revealed a treasure trove of new genetic disorders, expanded the knowledge of known disorders, and showed a critical role in infectious diseases. More comprehensive genetic tools specifically tailored for mammalian cell-based models have revealed a critical role for glycosylation in pathogen-host interactions, while also identifying new CDG susceptibility genes...
March 29, 2018: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/29601828/identification-of-variants-in-ret-and-ihh-pathway-members-in-a-large-family-with-history-of-hirschsprung-disease
#11
Y Sribudiani, R K Chauhan, M M Alves, L Petrova, E Brosens, C Harrison, T Wabbersen, B M de Graaf, T Rügenbrink, G Burzynski, R W W Brouwer, W F J van IJcken, S M Maas, A de Klein, J Osinga, B J L Eggen, A J Burns, A S Brooks, I T Shepherd, R M W Hofstra
BACKGROUND & AIMS: Hirschsprung disease (HSCR) is an inherited congenital disorder characterized by absence of enteric ganglia in the distal part of the gut. Variants in ret proto-oncogene (RET) have been associated with up to 50% of familial and 35% of sporadic cases. We searched for variants that affect disease risk in a large, multi-generational family with history of HSCR in a linkage region previously associated with the disease (4q31.3-q32.3) and exome wide. METHODS: We performed exome sequencing analyses of a family in the Netherlands with 5 members diagnosed with HSCR and 2 members diagnosed with functional constipation...
March 27, 2018: Gastroenterology
https://www.readbyqxmd.com/read/29579191/glycosyltransferase-genes-that-cause-monogenic-congenital-disorders-of-glycosylation-are-distinct-from-glycosyltransferase-genes-associated-with-complex-diseases
#12
Hiren J Joshi, Lars Hansen, Yoshiki Narimatsu, Hudson H Freeze, Bernard Henrissat, Eric Bennett, Hans H Wandall, Henrik Clausen, Katrine T Schjoldager
Glycosylation of proteins, lipids and proteoglycans in human cells involves at least 167 identified glycosyltransferases (GTfs), and these orchestrate the biosynthesis of diverse types of glycoconjugates and glycan structures. Mutations in this part of the genome-the GTf-genome-cause more than 58 rare, monogenic congenital disorders of glycosylation (CDGs). They are also statistically associated with a large number of complex phenotypes, diseases or predispositions to complex diseases based on Genome-Wide Association Studies (GWAS)...
March 22, 2018: Glycobiology
https://www.readbyqxmd.com/read/29573151/more-than-just-sugars-cog-complex-deficiency-causes-glycosylation-independent-cellular-defects
#13
Jessica Bailey Blackburn, Tetyana Kudlyk, Irina Pokrovskaya, Vladimir V Lupashin
The Conserved Oligomeric Golgi (COG) complex controls membrane trafficking and ensures Golgi homeostasis by orchestrating retrograde vesicle trafficking within the Golgi. Human COG defects lead to severe multi-systemic diseases known as COG-Congenital Disorders of Glycosylation (COG-CDG). To gain better understanding of COG-CDGs we compared COG knockout cells to cells deficient to two key enzymes, Alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase (MGAT1) and UDP-glucose 4-epimerase (GALE), which contribute to proper N- and O-glycosylation...
March 23, 2018: Traffic
https://www.readbyqxmd.com/read/29561836/impaired-proteoglycan-glycosylation-elevated-tgf-%C3%AE-signaling-and-abnormal-osteoblast-differentiation-as-the-basis-for-bone-fragility-in-a-mouse-model-for-gerodermia-osteodysplastica
#14
Wing Lee Chan, Magdalena Steiner, Tomasz Witkos, Johannes Egerer, Björn Busse, Shuji Mizumoto, Jan M Pestka, Haikuo Zhang, Ingrid Hausser, Layal Abo Khayal, Claus-Eric Ott, Mateusz Kolanczyk, Bettina Willie, Thorsten Schinke, Chiara Paganini, Antonio Rossi, Kazuyuki Sugahara, Michael Amling, Petra Knaus, Danny Chan, Martin Lowe, Stefan Mundlos, Uwe Kornak
Gerodermia osteodysplastica (GO) is characterized by skin laxity and early-onset osteoporosis. GORAB, the responsible disease gene, encodes a small Golgi protein of poorly characterized function. To circumvent neonatal lethality of the GorabNull full knockout, Gorab was conditionally inactivated in mesenchymal progenitor cells (Prx1-cre), pre-osteoblasts (Runx2-cre), and late osteoblasts/osteocytes (Dmp1-cre), respectively. While in all three lines a reduction in trabecular bone density was evident, only GorabPrx1 and GorabRunx2 mutants showed dramatically thinned, porous cortical bone and spontaneous fractures...
March 21, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29547901/molecular-partners-of-hnot-alg3-the-human-counterpart-of-the-drosophila-not-and-yeast-alg3-gene-suggest-its-involvement-in-distinct-cellular-processes-relevant-to-congenital-disorders-of-glycosylation-cancer-neurodegeneration-and-a-variety-of-further-pathologies
#15
Benedikt Hacker, Christoph Schultheiß, Michael Döring, Ursula Kurzik-Dumke
This study provides first insights into the involvement of hNOT/ALG3, the human counterpart of the Drosophila Neighbour of TID and yeast ALG3 gene, in various putative molecular networks. HNOT/ALG3 encodes two translated transcripts encoding precursor proteins differing in their N-terminus and showing 33% identity with the yeast asparagine-linked glycosylation 3 (ALG3) protein. Experimental evidence for the functional homology of the proteins of fly and man in the N-glycosylation has still to be provided. In this study, using the yeast two-hybrid technique we identify 17 molecular partners of hNOT-1/ALG3-1...
June 1, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29531722/a-novel-homozygous-mutation-in-the-mannose-phosphate-isomerase-gene-causing-congenital-disorder-of-glycation-and-hyperinsulinemic-hypoglycemia-in-an-infant
#16
Asma Deeb, Abdulla Al Amoodi
We report a 4 years girl with congenital disorders of glycosylation (CDG) type Ib due to a novel homozygous mutation in MPI gene. She presented with diazoxide-responsive hyperinsulinemic hypoglycemia. CDG should be considered in unexplained hypoglycemia particularly in consanguineous families. Diagnosis enables monitoring/prevention of disease comorbidities and early effective treatment.
March 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29502919/complex-phenotypes-in-inborn-errors-of-metabolism-overlapping-presentations-in-congenital-disorders-of-glycosylation-and-mitochondrial-disorders
#17
REVIEW
Thatjana Gardeitchik, Jeroen Wyckmans, Eva Morava
Congenital disorders of glycosylation (CDG) and mitochondrial disorders have overlapping clinical features, including central nervous system, cardiac, gastrointestinal, hepatic, muscular, endocrine, and psychiatric disease. Specific abnormalities orienting the clinician toward the right diagnostic approach include abnormal fat distribution, coagulation abnormalities, together with anticoagulation abnormalities, hyperinsulinism, and congenital malformations in CDG. Diabetes, sensorineural deafness, and depression are very rare in CDG but common in mitochondrial disease...
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29497882/clinical-glycomics-for-the-diagnosis-of-congenital-disorders-of-glycosylation
#18
Nurulamin Abu Bakar, Dirk J Lefeber, Monique van Scherpenzeel
Clinical glycomics comprises a spectrum of different analytical methodologies to analyze glycan structures, which provides insights into the mechanisms of glycosylation. Within clinical diagnostics, glycomics serves as a functional readout of genetic variants, and can form a basis for therapy development, as was described for PGM1-CDG. Integration of glycomics with genomics has resulted in the elucidation of previously unknown disorders of glycosylation, namely CCDC115-CDG, TMEM199-CDG, ATP6AP1-CDG, MAN1B1-CDG, and PGM1-CDG...
March 1, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29473937/large-deletion-in-pigl-a-common-mutational-mechanism-in-chime-syndrome
#19
José Rm Ceroni, Guilherme L Yamamoto, Rachel S Honjo, Chong A Kim, Maria R Passos-Bueno, Débora R Bertola
CHIME syndrome is an extremely rare autosomal recessive multisystemic disorder caused by mutations in PIGL. PIGL is an endoplasmic reticulum localized enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which plays a role in the anchorage of cell-surface proteins including receptors, enzymes, and adhesion molecules. Germline mutations in other members of GPI and Post GPI Attachment to Proteins (PGAP) family genes have been described and constitute a group of diseases within the congenital disorders of glycosylation...
January 2018: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/29472449/nrf2-activation-attenuates-genetic-endoplasmic-reticulum-stress-induced-by-a-mutation-in-the-phosphomannomutase-2-gene-in-zebrafish
#20
Katsuki Mukaigasa, Tadayuki Tsujita, Vu Thanh Nguyen, Li Li, Hirokazu Yagi, Yuji Fuse, Yaeko Nakajima-Takagi, Koichi Kato, Masayuki Yamamoto, Makoto Kobayashi
Nrf2 plays critical roles in animals' defense against electrophiles and oxidative stress by orchestrating the induction of cytoprotective genes. We previously isolated the zebrafish mutant it768 , which displays up-regulated expression of Nrf2 target genes in an uninduced state. In this paper, we determine that the gene responsible for it768 was the zebrafish homolog of phosphomannomutase 2 (Pmm2), which is a key enzyme in the initial steps of N-glycosylation, and its mutation in humans leads to PMM2-CDG (congenital disorders of glycosylation), the most frequent type of CDG...
March 13, 2018: Proceedings of the National Academy of Sciences of the United States of America
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