First report of an Ethylmalonic encephalopathy (EE) patient in Iran
محل انتشار: اولین کنگره پزشکی شخصی
سال انتشار: 1395
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 427
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شناسه ملی سند علمی:
IPMCMED01_138
تاریخ نمایه سازی: 23 آذر 1397
چکیده مقاله:
Ethylmalonic encephalopathy (EE) is an autosomal recessive disease of early infancy characterized by progressive encephalopathy, recurrent petechiae, acrocyanosis and chronic diarrhea. EE is caused by mutations in the ETHE1 gene that codes for a mitochondrial protein located into the matrix of the organelle.EE is characterized by psychomotor regression and generalizedhypotonia, later evolving into spastic tetraparesis, dystonia, and eventually global neurological failure.Lactic acidosis, high levels of ethylmalonic acid (EMA) in urine, and high levelsof C4 and C5 acylcarnitines in blood are the biochemical hallmarks of this disease.Symmetrical necrotic lesions in the deep gray matter structures are the main neuropathological features of the disease.In our patient, laboratory finding and MRI features suggest the diagnosis of EE, therefore PCR- sequencing of ETHE1 gene was performed. Seven sets of primers were designed to amplify the coding regions and exon–intron boundaries of the ETHE1gene using Gene Runner .Sequence analysis showed a homozygous c.1461C> T (p.R487W) mutation in exon 4 of the patient, which was previously reported.Since the first report of EE by Burlina et al in 1991, 46 other patients and 31 different mutations havebeen reported in the literature. We have described one additional EEpatient;this report broadens the phenotype and genotype of EE in Iran.
کلیدواژه ها:
نویسندگان
Vadieh Ghodsinejsd
Medical genetic center ,national institute of genetic engineering and biotechnology
Omid Aryani
Iran University of Medical Sciences,Tehran, Iran
Masumeh Dehghan
National Institute for Genetic Engineering and Biotechnology(NIGEB), Tehran, Iran
Arash Kadivar
National Institute for Genetic Engineering and Biotechnology(NIGEB), Tehran, Iran