Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene

2014 ◽  
Vol 129 ◽  
pp. 7-12 ◽  
Author(s):  
J. Koht ◽  
A. Rengmark ◽  
T. Opladen ◽  
K. A. Bjørnarå ◽  
T. Selberg ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Genetic Studies ◽  
Sepiapterin Reductase ◽  
Reductase Gene

scholarly journals Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene

2019 ◽  
Vol 35 (6) ◽  
Author(s):  
Tawfiq Froukh
Keyword(s):  
Genetic Study ◽  
Clinical Symptoms ◽  
Novel Mutation ◽  
Gene Encoding ◽  
Early Management ◽  
Reductase Deficiency ◽  
Creative Commons ◽  
Sepiapterin Reductase ◽  
Recessive Mutations ◽  
Reductase Gene

Dopa-responsive dystonia due to sepiapterin reductase deficiency (OMIM#612716) is caused by recessive mutations in the gene encoding sepiapterin reductase (SPR), which plays an important role in the biosynthesis of tetrahydrobiopterin (BH4). One Jordanian patient to first cousin parents is reported in this study. The parents of the proband have recognized the symptoms of their daughter at six months old with motor developmental delay. The symptoms were progressed after-then to include speech delay, seizure, ataxia, oculomotor apraxia, dysarthia and choreoathetosis. Despite of these symptoms, the clinicians in Jordan were unable to diagnose the case. In August 2018, the proband (8 years old) was presented to the department of biotechnology and genetic engineering at Philadelphia University in Jordan for the purposes of performing whole exome sequencing (WES). Analysis of WES data has revealed novel homozygous frameshift variant in the gene SPR (NM_003124.4:c.40delG,p.Ala15Profs*100). The variant is heterozygous in the parents and in the healthy male siblings. Therefore, the studied case was diagnosed with sepiapterin reductase deficiency. Because this disease is likely to be treated recommendations were given to the family immediately to start treatments trials. The case in this study illustrates the difficulties of diagnosing sepiapterin reductase deficiency based on clinical symptoms only and thus renders the possibilities of early management. Also, this study reinforces the importance of running WES to undiagnosed neurodevelopmental cases. doi: https://doi.org/10.12669/pjms.35.6.1181 How to cite this:Froukh T. Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene. Pak J Med Sci. 2019;35(6):1736-1739. doi: https://doi.org/10.12669/pjms.35.6.1181 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Novel mutation in the ?7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome

2001 ◽  
Vol 103 (4) ◽  
pp. 344-347 ◽  
Author(s):  
Timothy Evans ◽  
Alisa Poh ◽  
Charlotte Webb ◽  
Brandon Wainwright ◽  
Carol Wicking ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Reductase Gene ◽  
Opitz Syndrome

Genomic Organization and Chromosomal Localization of the Human Sepiapterin Reductase Gene

1998 ◽  
Vol 251 (2) ◽  
pp. 597-602 ◽  
Author(s):  
Tamae Ohye ◽  
Tada-aki Hori ◽  
Setsuko Katoh ◽  
Toshiharu Nagatsu ◽  
Hiroshi Ichinose
Keyword(s):  
Genomic Organization ◽  
Chromosomal Localization ◽  
Sepiapterin Reductase ◽  
Reductase Gene

Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease

2011 ◽  
Vol 32 (11) ◽  
pp. 2108.e1-2108.e5 ◽  
Author(s):  
Manu Sharma ◽  
Demetrius M. Maraganore ◽  
John P.A. Ioannidis ◽  
Olaf Riess ◽  
Jan O. Aasly ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Sepiapterin Reductase ◽  
Reductase Gene

A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly

2004 ◽  
Vol 315 (1) ◽  
pp. 219-223 ◽  
Author(s):  
Yhong-Hee Shim ◽  
Soo-Han Bae ◽  
Jai-Hyun Kim ◽  
Kyu-Rae Kim ◽  
Chong Jai Kim ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Novel Mutation ◽  
Reductase Gene
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