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 ◽  
...  
2021 ◽  
Author(s):  
Rui Zhang ◽  
Yajing Hao ◽  
Ying Xu ◽  
Jiale Qin ◽  
Yanfang Wang ◽  
...  

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.


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

Gene ◽  
2013 ◽  
Vol 531 (2) ◽  
pp. 191-198 ◽  
Author(s):  
Mateus Grings ◽  
Alana Pimentel Moura ◽  
Belisa Parmeggiani ◽  
Gustavo Flora Marcowich ◽  
Alexandre Umpierrez Amaral ◽  
...  

2020 ◽  
Vol 42 (2) ◽  
pp. 157-164 ◽  
Author(s):  
Indar Kumar Sharawat ◽  
Lokesh Saini ◽  
Bhanudeep Singanamala ◽  
Arushi Gahlot Saini ◽  
Jitendra Kumar Sahu ◽  
...  

Cell ◽  
1997 ◽  
Vol 91 (7) ◽  
pp. 973-983 ◽  
Author(s):  
Caroline Kisker ◽  
Hermann Schindelin ◽  
Andrew Pacheco ◽  
William A Wehbi ◽  
Robert M Garrett ◽  
...  

2014 ◽  
Vol 36 (2) ◽  
pp. 176-179 ◽  
Author(s):  
Susana Rocha ◽  
Ana Cristina Ferreira ◽  
Ana Isabel Dias ◽  
José Pedro Vieira ◽  
Sílvia Sequeira

2005 ◽  
Vol 280 (39) ◽  
pp. 33506-33515 ◽  
Author(s):  
Erkan Karakas ◽  
Heather L. Wilson ◽  
Tyler N. Graf ◽  
Song Xiang ◽  
Sandra Jaramillo-Busquets ◽  
...  

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