Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations

2013 ◽  
Vol 23 (2) ◽  
pp. 165-169 ◽  
Author(s):  
Gianina Ravenscroft ◽  
Elizabeth M. Thompson ◽  
Emily J. Todd ◽  
Kyle S. Yau ◽  
Nina Kresoje ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage ◽  
Disease Mutations ◽  
Whole Exome

scholarly journals A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series

2015 ◽  
Vol 187 (2) ◽  
pp. E68-E73 ◽  
Author(s):  
Isabelle Rousseau-Nepton ◽  
Minoru Okubo ◽  
Rosemarie Grabs ◽  
John Mitchell ◽  
Constantin Polychronakos ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Case Series ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iiia ◽  
Whole Exome

scholarly journals Whole Exome Sequencing detects PYGM variants in two adults with McArdle disease

2022 ◽  
pp. mcs.a006173
Author(s):  
Amanda Thomas-Wilson ◽  
Avinash V Dharmadhikari ◽  
Jonas J Heymann ◽  
Vaidehi Jobanputra ◽  
Salvatore DiMauro ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Storage Disease ◽  
Missense Variant ◽  
Glycogen Storage ◽  
Exercise Intolerance ◽  
Mcardle Disease ◽  
Whole Exome ◽  
History Of ◽  
In Trans ◽  
The Common

McArdle disease is a progressive and debilitating glycogen storage disease with typical onset in late childhood. Here we describe a former competitive athlete with early adult onset McArdle disease and a septuagenarian with a history of exercise-intolerance since adolescence who was evaluated for proximal muscle weakness. Exome sequencing identified bi-allelic variants in PYGM gene for both cases. The former athlete has the common, well-known pathogenic variant p.(Arg50Ter) in trans with a novel missense variant, p.(Asp694Glu). The second individual has a previously described homozygous missense variant, p.(Arg771Gln). Here, we describe the clinical course, enzyme-testing results using muscle tissue and molecular findings for the individuals, and add to the knowledge of the genotypic spectrum of this disorder.

scholarly journals Identification of p.His119Leu mutation in the G6PC gene of a Vietnamese patient with glycogen storage disease type Ia

2020 ◽  
Vol 42 (2) ◽  
Author(s):  
Nguyen Huy Hoang ◽  
Vu Chi Dung ◽  
Nguyen Van Tung ◽  
Nguyen Ngoc Lan ◽  
Ha Thi Dung
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Whole Exome ◽  
Sequencing Method ◽  
Type Ia ◽  
In Silico Analyses ◽  
Homozygous Form

Glycogen storage disease type Ia (GSD Ia), a rare autosomal inherited disorder, is characterized by accumulation of excessive glycogen and fat in the liver. Primary symptoms of GSD Ia include hypoglycemia; metabolic acidosis; elevated levels of lactate, uric acid and lipids; hepatomagaly and growth retardation. Glycogen storage disease type Ia was caused by mutations in the G6PC gene. In this study, mutations in a Vietnamese patient with glycogen storage disease type Ia were analyzed using the whole exome sequencing method. A missense mutation c.356A>T (p.His119Leu) in the G6PC gene of the patient was identified in exon 3. Genetic analysis confirmed that this mutation was present under homozygous form In-silico analyses using SIFT and Mutation Taster confirmed the damaging effects of this mutations on the function of the proteins. This result enriches knowledge of the G6PC gene mutation spectrum and provides genetic data for further studies on glycogen storage disease type Ia in Viet Nam. 

scholarly journals A Rare Case of Glycogen Storage Disease Type 1a Presenting with Hemophagocytic Lymphohistiocytosis (HLH)

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Hedyeh Saneifard ◽  
Bibishahin Shamsian ◽  
Marjan Shakiba ◽  
Simin Karizi Zarea ◽  
Ali Sheikhy
Keyword(s):  
Glycogen Storage Disease ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Storage Disease ◽  
Metabolic Diseases ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Recurrent Fever ◽  
Whole Exome ◽  
Life Threatening

Background. Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome characterized by fever, respiratory distress, massive hepatomegaly, and bicytopenia. It is classified into primary (congenital) and secondary (acquired) types. There are many diseases associated with secondary HLH, but glycogen storage disease is a novel cause of secondary HLH. Case Presentation. In this case, we present a five-month-old female infant with recurrent fever, poor feeding, pallor, and prolonged diarrhea for two months. With a diagnosis of HLH, the patient was treated with IVIG and prednisolone. After treatment was initiated, the patient’s general condition improved. All metabolic workup was normal. We did whole-exome sequencing that confirmed glycogen storage disease (GSD) type 1. Conclusion. Metabolic diseases are one of the severe causes of secondary HLH in infants; hence, complete metabolic assessment is mandatory in these patients, and GSD must be included in the differential diagnosis of HLH metabolic causes.

scholarly journals Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi−Bickel Syndrome

2021 ◽  
Vol 11 ◽  
Author(s):  
Maryam Eghbali ◽  
Kiyana Sadat Fatemi ◽  
Shadab Salehpour ◽  
Maryam Abiri ◽  
Hassan Saei ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Genes ◽  
Carrier Status ◽  
Mendelian Disease ◽  
Pathogenic Variants ◽  
Glycogen Storage Diseases ◽  
Whole Exome

Glycogen storage diseases (GSDs) are the heterogeneous group of disorders caused by mutations in at least 30 different genes. Different types of GSDs, especially liver GSDs, take overlapping symptoms and can be clinically indistinguishable. This survey evaluated the use of whole-exome sequencing (WES) for the genetic analysis of the liver GSD-suspected patients in three unrelated families. An in-house filtering pipeline was used to assess rare pathogenic variants in GSD-associated genes, autosomal recessive/mendelian disorder genes (carrier status for genetic counseling subjects), and the ACMG’s list of 59 actionable genes. For the interpretation of the causative variants and the incidental/secondary findings, ACMG guidelines were applied. Additionally, we have explored PharmGKB class IA/IB pharmacogenetic variants. The segregation analysis was performed using Sanger sequencing for the novel causative variants. Bioinformatics analysis of the exome data in three individuals revealed three novel homozygous causative variants in the GSD-associated genes. The first variant, c.298_307delATGATCAACC in PYGL gene has related to HERS disease (GSD VI). Both variants of c.1043dupT and c.613-1G > C in SLC2A2 gene have been associated with Fanconi-Bickel syndrome (GSDXI). Eight pathogenic/likely pathogenic medical actionable findings in Mendelian disease genes and 10 pharmacogenetic variants with underlying drug response phenotypes have been identified. No known/expected pathogenic variants were detected in the ACMG’s list of 59 actionable genes. The logical filtering steps can help in finding other medical actionable secondary/incidental findings as well as effectively identifying the causative variants in heterogeneous conditions such as GSDs. Three novel variants related to GSD genes recognized in liver GSD-suspected patients with early infantile and childhood-age onset.

Whole Exome Sequencing (WES) in Familien mit linksventrikulärer Ausfluβtraktobstruktion (LVOTO)

2014 ◽  
Vol 62 (S 02) ◽  
Author(s):  
M. Hitz ◽  
S. Al-Turki ◽  
A. Schalinski ◽  
U. Bauer ◽  
T. Pickardt ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome

FV 1031. Whole Exome Sequencing for Children with Dyskinetic Movement Disorder

2018 ◽  
Author(s):  
Yasemin Dincer ◽  
Michael Zech ◽  
Matias Wagner ◽  
Nikolai Jung ◽  
Volker Mall ◽  
...  
Keyword(s):  
Movement Disorder ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Dyskinetic Movement
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