+ Site Statistics
References:
54,258,434
Abstracts:
29,560,870
PMIDs:
28,072,757
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Compound heterozygous polymerase gamma gene mutation in a patient with Alpers disease



Compound heterozygous polymerase gamma gene mutation in a patient with Alpers disease



Seminars in Pediatric Neurology 17(1): 62-64



Alpers disease is a mitochondrial depletion syndrome characterized by psychomotor retardation, intractable epilepsy, and liver failure. Polymerase gamma (POLG) gene mutations are a known cause of the disease. We describe a case in which a 14-month-old female presented with epilepsia partialis continua evolving into generalized status epilepticus. Treatment with multiple antiepileptic medications and the ketogenic diet eliminated her seizures, but she remained severely encephalopathic. Magnetic resonance imaging showed diffuse atrophy of gray-matter structures. She ultimately developed liver failure and died. Mitochondrial analysis revealed compound heterozygosity for 3 POLG gene mutations, 2 of which were previously unreported.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 052269154

Download citation: RISBibTeXText

PMID: 20434700

DOI: 10.1016/j.spen.2010.02.012


Related references

Alpers-Huttenlocher syndrome caused by a novel compound heterozygous mutation of POLG gene: a case report. Zhongguo Dang Dai Er Ke Za Zhi 19(5): 498-501, 2017

A novel compound heterozygous mutation in the DAP12 gene in a patient with Nasu-Hakola disease. Journal of the Neurological Sciences 252(1): 88-91, 2006

Severe clinical course in a patient with homozygous mtDNA polymerase gamma mutation (A467T) and heterozygous thymidine phosphorylase mutation (A465T). A possible digenic effect?. 2007

Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene. Stem Cell Research 27: 90-94, 2018

Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation. Plos One 7(5): E38220, 2012

A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus. American Journal of Ophthalmology 130(5): 672-675, 2000

Novel compound heterozygous mutation of the MC2R gene in a patient with familial glucocorticoid deficiency. Journal of Pediatric Endocrinology & Metabolism 19(9): 1167-1170, 2006

A novel compound heterozygous mutation in the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency. Discovery Medicine 24(133): 175-182, 2018

A compound heterozygous mutation of CYP27A1 gene in a Taiwanese patient with cerebrotendinous xanthomatosis. Journal of Orthopaedic Science 16(6): 825-827, 2012

Response to Mivacurium in a Patient Compound Heterozygous for a Novel and a Known Silent Mutation in the Butyrylcholinesterase Gene. Anesthesiology 95(3): 600-606, 2001

A novel compound heterozygous mutation in the SLC22A12 (URAT1) gene in a Japanese patient associated with renal hypouricemia. Clinica Chimica Acta; International Journal of Clinical Chemistry 463: 119-121, 2016

Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation. Human Mutation 17(2): 152-153, 2001

Compound heterozygous mutation of aquaporin 2 gene in woman patient with congenital nephrogenic diabetes insipidus. Internal Medicine 48(6): 437-440, 2009

Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation. Journal of Pediatric Endocrinology and Metabolism 28(5-6): 695-699, 2016

A Novel Compound Heterozygous Mutation in the CYP4V2 Gene in a Japanese Patient with Bietti's Crystalline Corneoretinal Dystrophy. Case Reports in Ophthalmology 2(3): 296-301, 2011