scholarly journals A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency

2021 ◽  
Author(s):  
Alexander Tobias Kaczmarek ◽  
Daniel Bender ◽  
Titus Gehling ◽  
Joshua Benedict Kohl ◽  
Hülya‐Sevcan Daimagüler ◽  
...  
Keyword(s):  
Sulfite Oxidase ◽  
Molybdenum Cofactor ◽  
Oxidase Deficiency ◽  
Cofactor Binding ◽  
Sulfite Oxidase Deficiency

scholarly journals Isolated sulfite oxidase deficiency: a founder mutation

2020 ◽  
Vol 6 (6) ◽  
pp. a005900
Author(s):  
Aizeddin A. Mhanni ◽  
Cheryl R. Greenberg ◽  
Elizabeth L. Spriggs ◽  
Ronald Agatep ◽  
Reena Ray Sisk ◽  
...  
Keyword(s):  
Founder Mutation ◽  
Sulfite Oxidase ◽  
Oxidase Deficiency ◽  
Sulfite Oxidase Deficiency

Whole exome sequencing identified a homozygous novel mutation in SUOX gene causes extremely rare autosomal recessive isolated sulfite oxidase deficiency and literature review

2021 ◽  
Author(s):  
Rui Zhang ◽  
Yajing Hao ◽  
Ying Xu ◽  
Jiale Qin ◽  
Yanfang Wang ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Recessive ◽  
Novel Mutation ◽  
Sulfite Oxidase ◽  
Loss Of Function ◽  
Oxidase Deficiency ◽  
Neurometabolic Disorders ◽  
Whole Exome ◽  
Sulfite Oxidase Deficiency

Abstract Background: Isolated sulfite oxidase deficiency (ISOD) is the rarest types of life-threatening neurometabolic disorders characterized by neonatal intractable seizures and severe developmental delay with an autosomal recessive mode of inheritance. ISOD is extremely rare and till date only 32 mutations have been identified and reported worldwide. Germline mutation in SUOX gene causes ISOD. Methods: Here, we investigated a 5-days old Chinese female child, presented with intermittent tremor or seizures of limbs, neonatal encephalopathy, subarachnoid cyst and haemorrhage, dysplasia of corpus callosum, neonatal convulsion, respiratory failure, cardiac failure, hyperlactatemia, severe metabolic acidosis, hyperglycemia, hyperkalemia, moderate anemia, atrioventricular block and complete right bundle branch block. Results: Whole exome sequencing identified a novel homozygous transition (c.1227G>A) in exon 6 of the SUOX gene in the proband. This novel homozygous variant leads to the formation of a truncated sulfite oxidase (p.Trp409*) of 408 amino acids. Hence, it is a loss-of-function variant. Proband’s father and mother is carrying this novel variant in a heterozygous state. This variant was not identified in 200 ethnically matched normal healthy control individuals. Conclusions: Our study not only expand the mutational spectrum of SUOX gene associated ISOD, but also strongly suggested the application of whole exome sequencing for identifying candidate genes and novel disease-causing mutations.

Clinical and Imaging Observations in Isolated Sulfite Oxidase Deficiency

2011 ◽  
Vol 26 (8) ◽  
pp. 1036-1040 ◽  
Author(s):  
Parayil Sankaran Bindu ◽  
Rita Christopher ◽  
Anita Mahadevan ◽  
Rose Dawn Bharath
Keyword(s):  
Sulfite Oxidase ◽  
Oxidase Deficiency ◽  
Sulfite Oxidase Deficiency
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