Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients.

CONCLUSIONS: We identified disease-causing mutations in all three probands, which points to the important role of SURF1 gene in etiology of Leigh syndrome in Slovakia. Our data showed that patients with atypical Leigh syndrome phenotype without lesions in basal ganglia may benefit from the whole exome sequencing method. In the case of probands presenting the typical phenotype, Sanger sequencing of the SURF1 gene seems to be an effective method of DNA analysis. PMID: 29715184 [PubMed - in process]
Source: Endocrine Regulations - Category: Endocrinology Tags: Endocr Regul Source Type: research