Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome.

Smith-Lemli-Opitz syndrome is a unique malformation syndrome characterized by a defect in cholesterol biosynthesis, which is very rare among populations in Middle and East Asia. The authors identified compound heterozygous mutations ([p.Arg352Trp] + [p.

Is unilateral brain regional perfusion neurologically safe during congenital aortic arch surgery?

Objective: This study was conducted to demonstrate that unilateral brain regional perfusion during congenital aortic arch anomaly surgery is neurologically safe.

Methods: Fifteen patients who were diagnosed with congenital aortic arch anomaly between June 2004 and May 2006 were enrolled in this study. The mean age and body weight of the enrolled patients were 40.

Severe lactic acidosis associated with linezolid use in a patient with the mitochondrial DNA A2706G polymorphism.

Linezolid, an oxazolidinone antimicrobial, exerts its effect by binding to bacterial 23S ribosomal RNA, preventing the formation of the initiation complex. Its use is associated with reversible hyperlactatemia and lactic acidosis, and inhibition of mitochondrial protein synthesis may be the mechanism underlying this adverse effect. We describe a 35-year-old woman who developed severe lactic acidosis after she received linezolid for 35 days to treat a disseminated infection with Mycobacterium avium-intracellulare complex.

A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency.

Mitochondrial disorders have notoriously variable clinical presentations, particularly in children. A growing number of reports describe mutations in the mitochondrial DNA (mtDNA)-encoded subunits of complex I (EC 1.6.

Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by a broad phenotypic spectrum that includes seizures, mental retardation, renal dysfunction and dermatological abnormalities. TSC is caused by mutations affecting either of the tumor-suppressor genes TSC1 and TSC2. At least 495 mutations of TSC1 and TSC2 have been reported.

Surgical outcome and prognostic factors of pediatric epilepsy caused by cortical dysplasia.

Objects: We analyzed 30 patients with cortical dysplasia (CD) and epilepsy to evaluate the clinical characteristics and surgical outcome of both epilepsy control and neurocognition.

Materials And Methods: The mean ages at seizure onset and at the time of the operation were 3.6 years (range, 1 month-12.

Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype.

To date, approximately 200 different mutations in the MECP2 gene have been identified. We analyzed the entire coding sequence of the MECP2 gene and the X-chromosome inactivation pattern in 42 sporadic cases of Rett syndrome. Of the 42 patients, 30 had pathogenic mutations, including 14 different mutations: 9 missense mutations, 4 nonsense mutations, and 1 frameshift mutation.

Clinical features of A3243G mitochondrial tRNA mutation.

Mitochondrial cytopathy is a heterogeneous group of disorders with a wide range of clinical features. To evaluate the incidence and clinical heterogeneity of A3243G mitochondrial tRNA mutation in the Korean population, we evaluated patients who were clinically suggestive of having mitochondrial encephalomyopathy. Eighty-five patients were included in this study.

Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome.

Rett syndrome is a progressive neurodevelopmental disorder occurring predominantly in females. Recently, mutations in the MECP2 gene on Xq28, which encodes methyl-CpG binding protein 2, were identified as responsible for some cases of Rett syndrome. In the present study, we analyzed the entire coding sequence of the MECP2 gene in 20 sporadic cases of Rett syndrome in Korea.