A novel mutation in the glutaryl‐CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1

A novel mutation in the glutaryl‐CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1

Abstract Our findings revealed the mutation c.536T>C (p. Leu179Pro) in GCDH gene although has not been reported so far, but the in‐silico analysis and clinical symptoms of the patient indicated that the mutation is pathogenic full stop. Also, it can be diagnosed and prevented in families affected...

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Bibliographic Details
Main Authors: Sima Rayat, Saeid Morovvati
Format: Article
Language:English
Published: Wiley 2021-09-01
Series:Clinical Case Reports
Subjects:
GCDH
Glutaric acidemia type 1
mutation
Novel
Online Access:https://doi.org/10.1002/ccr3.4749
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spelling doaj-eefd7515ac5e41b6a225721ccd01c9802021-09-27T07:16:16ZengWileyClinical Case Reports2050-09042021-09-0199n/an/a10.1002/ccr3.4749A novel mutation in the glutaryl‐CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1Sima Rayat0Saeid Morovvati1Department of Biology, Science and Research Branch Islamic Azad University Tehran IranDepartment of Genetics Islamic Azad UniversityTehran Medical Sciences Branch Tehran IranAbstract Our findings revealed the mutation c.536T>C (p. Leu179Pro) in GCDH gene although has not been reported so far, but the in‐silico analysis and clinical symptoms of the patient indicated that the mutation is pathogenic full stop. Also, it can be diagnosed and prevented in families affected by the disease.https://doi.org/10.1002/ccr3.4749GCDHGlutaric acidemia type 1mutationNovel
collection DOAJ
language English
format Article
sources DOAJ
author Sima Rayat
Saeid Morovvati
spellingShingle Sima Rayat
Saeid Morovvati
A novel mutation in the glutaryl‐CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1
Clinical Case Reports
GCDH
Glutaric acidemia type 1
mutation
Novel
author_facet Sima Rayat
Saeid Morovvati
author_sort Sima Rayat
title A novel mutation in the glutaryl‐CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1
title_short A novel mutation in the glutaryl‐CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1
title_full A novel mutation in the glutaryl‐CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1
title_fullStr A novel mutation in the glutaryl‐CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1
title_full_unstemmed A novel mutation in the glutaryl‐CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1
title_sort novel mutation in the glutaryl‐coa dehydrogenase gene (gcdh) in an iranian patient affected with glutaric acidemia type 1
publisher Wiley
series Clinical Case Reports
issn 2050-0904
publishDate 2021-09-01
description Abstract Our findings revealed the mutation c.536T>C (p. Leu179Pro) in GCDH gene although has not been reported so far, but the in‐silico analysis and clinical symptoms of the patient indicated that the mutation is pathogenic full stop. Also, it can be diagnosed and prevented in families affected by the disease.
topic GCDH
Glutaric acidemia type 1
mutation
Novel
url https://doi.org/10.1002/ccr3.4749
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AT saeidmorovvati anovelmutationintheglutarylcoadehydrogenasegenegcdhinaniranianpatientaffectedwithglutaricacidemiatype1
AT simarayat novelmutationintheglutarylcoadehydrogenasegenegcdhinaniranianpatientaffectedwithglutaricacidemiatype1
AT saeidmorovvati novelmutationintheglutarylcoadehydrogenasegenegcdhinaniranianpatientaffectedwithglutaricacidemiatype1
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