Biallelic start loss variant, c. 1A > G in GCSH is associated with variant nonketotic hyperglycinemia-Reference-Cited by-同舟云学术

Biallelic start loss variant, c. 1A > G in GCSH is associated with variant nonketotic hyperglycinemia

Published:2021-05-03 Issue:2 Volume:100 Page:201-205
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Majethia Purvi¹,Somashekar Puneeth Hirivate¹,Hebbar Malavika¹,Kadavigere Rajagopal²,Praveen Balike Krishna³,Girisha Katta Mohan¹^ORCID,Shukla Anju¹^ORCID

Affiliation:

1. Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education Manipal India

2. Department of Radiodiagnosis Kasturba Medical College, Manipal, Manipal Academy of Higher Education Manipal India

3. Department of Pediatrics Father Muller Medical College Hospital Mangalore India

Funder

Eunice Kennedy Shriver National Institute of Child Health and Human Development

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13970

Reference19 articles.

1. Comprehensive mutation analysis ofGLDC,AMT, andGCSHin nonketotic hyperglycinemia

2. Lipoic acid biosynthesis defects

3. Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy

4. Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

5. Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

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5. Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency;Human Molecular Genetics;2022-10-03