Whole exome sequencing revealed a novel homozygous variant in the DGKE catalytic domain: a case report of familial hemolytic uremic syndrome

Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by microangiopathic hemolytic anemia caused by small vessel thrombosis, thrombocytopenia, and renal failure. The common cause of aHUS is a dysregulation in the alternative complement pathway. Mutations in none complement genes...

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Bibliographic Details
Published in:BMC medical genetics 2020-08, Vol.21 (1), p.1-169, Article 169
Main Authors: Gholizad-kolveiri, Soraya, Hooman, Nakysa, Alizadeh, Rasoul, Hoseini, Rozita, Otukesh, Hasan, Talebi, Saeed, Akouchekian, Mansoureh
Format: Article
Language:English
Subjects:
Age
Amino acids
Anemia
Antibodies
Case Report
Case reports
Computer applications
Deoxyribonucleic acid
DGKE
Diacylglycerol kinase
DNA
DNA sequencing
Genetic aspects
Genetic counseling
Genomes
Genomics
Hematuria
Hemolytic anemia
Hemolytic uremic syndrome
Hypertension
Kidney diseases
Kinases
Mutation
Parents & parenting
Polymorphism
Protein computational analysis
Protein structure
Proteins
Rare diseases
Renal failure
Thrombocytopenia
Thrombosis
Von Willebrand factor
Whole exome sequencing
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Summary:Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by microangiopathic hemolytic anemia caused by small vessel thrombosis, thrombocytopenia, and renal failure. The common cause of aHUS is a dysregulation in the alternative complement pathway. Mutations in none complement genes such as diacylglycerol kinase epsilon (DGKE) can also result in this syndrome. We suggest that some variations in the catalytic domain of DGKE like p.Asn314Lys which can cause alterations in secondary and 3-D structure of protein, might lead to aHUS.
ISSN:1471-2350
1471-2350
DOI:10.1186/s12881-020-01097-9