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Original Article
Protein and Genetic Analysis of Bruton's Tyrosine Kinase(Btk) in Three Korean X-linked Agammaglobulinemia(XLA) Families
Eun-Kyeong Jo, Chang-Hwa Song, Jeong-Kyu Park, Oh Kyung Lee, Dong-Soo Kim
Clin Exp Pediatr. 2002;45(1):44-54.   Published online January 15, 2002
Purpose : Mutations in the Bruton' s tyrosine kinase(Btk) gene are responsible for X-linked agammaglobulinemia( XLA), an immunodeficiency caused by a block in B cell differentiation. In this report we characterize the protein expression and genetic mutations of Btk in four Korean patients with three unrelated XLA families. Methods : The resulting Btk proteins were characterized by a flow cytometry and the mutations were analyzed...
Case Report
Fanconi-Bickel Syndrome Presented with Diabetes Mellitus and Galactosemia : Identification of a Novel Mutation in the GLUT2 Gene
You-Jeong Kim, Sun-Hee Rim, Young-Lim Shin, Han-Wook Yoo
Clin Exp Pediatr. 2001;44(10):1201-1205.   Published online October 15, 2001
Fanconi-Bickel syndrome is a rare autosomal recessive disorder of the carbohydrate metabolism recently demonstrated to be caused by mutations in GLUT2, the gene for the glucose transporter protein 2 expressed in the liver, pancreatic β islet-cells, intestine and kidney. Typical clinical and laboratory findings of Fanconi-Bickel syndrome are hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a...
Original Article
Study on Hepatitis B Virus Pre-S/S Gene Mutations in Children with Chronic Hepatitis B Infection
Byeong Hee Son, Yeong Hong Park, Woo Yeong Chung
Clin Exp Pediatr. 2001;44(7):741-751.   Published online July 15, 2001
Purpose : Hepatitis B virus(HBV) with various mutations has been reported. The aims of this study were to investigate the frequency and manifestation of HBV pre-S/S mutations in children with chronic hepatitis B infection. Methods : Sera from 17 children with chronic hepatitis B infection were analyzed by direct sequencing of polymerase chain reaction amplification of HBV DNA. Results : Seventeen...
Identification of Novel Mutations and Three Most Common Mutations in the Human ATP7B Gene of Korean Patients with Wilson Disease
Han-Wook Yoo, Gu-Hwan Kim, Ji-Won Chung, Chang-Yeon Lee, Kyung-Mo Kim
Clin Exp Pediatr. 2001;44(5):569-576.   Published online May 15, 2001
Purpose : Wilson disease is an autosomal recessive disorder of copper transport, which is probably the most common inherited metabolic disorder in Korea. It is characterized by defective biliary excretion of copper and impairment in the corporation of copper into ceruloplasmin. In Wilson disease, synthesis of a defective copper transporting enzyme leads to the accumulation of copper in the liver, brain and kidney. The...
Hepatitis B Virus Pre-S Gene Mutations in Children with Chronic Hepatitis B Infection
Jae Young Kim, Woo Yeong Chung, Chul Ho Kim
Clin Exp Pediatr. 2000;43(9):1232-1240.   Published online September 15, 2000
Purpose : The envelope of HBV consists of three polypeptides which are encoded in pre-S/S open reading frame. Three translation initiation sites are present within this pre-S/S open reading frame, i.e. pre-S1, pre-S2, and S, allowing the expression of large, middle and small HBs proteins. The pre-S1 is thought to carry the receptor binding site for viral entry into hepatocyte...
Mutations in Hepatitis B Virus Precore and Core Promotor in Children with Chronic Hepatitis B Infection - Comparison Between Vertical and Non-vertical Transmission -
Jin Kuk Kim, Yeong Hong Park, Woo Yeong Chung, Chul Ho Kim
Clin Exp Pediatr. 2000;43(6):779-791.   Published online June 15, 2000
Purpose : The aims of this study were to investigate the frequencies and role of hepatitis B virus(HBV) precore and core promotor mutations in children with chronic hepatitis B infection. Methods : Sera from 46 children with chronic hepatitis B infection were analyzed by direct sequencing of polymerase chain reaction product of HBV DNA. In this study, the patients were divided...
Hepatitis B Virus Precore and Core Promotor Mutations in Children with Chronic Hepatitis B Infection
Woo Yeong Chung, Jin Kuk Kim, Yeong Hoon Kim, Yeong Hong Park, Chul Ho Kim
Clin Exp Pediatr. 1999;42(10):1392-1402.   Published online October 15, 1999
Purpose : The aims of this study were to investigate the frequencies and role of hepatitis B virus(HBV) precore and core promotor mutations in children with chronic hepatitis B infection. Methods : Sera from 31 children with chronic HBV infection were analyzed by direct sequencing of polymerase chain reaction amplification of HBV DNA. Results : Twenty-nine adr type were analyzed. The mutations...
MELAS Syndrome Confirmed by Mitochondrial DNA Analysis in Siblings
Young Ghil Rah, Soo Ahn Chae, In Suk Lim, Dong Keun Lee, Byoung Hun Yoo, Tae Sung Ko, Han Wook Yoo
Clin Exp Pediatr. 1999;42(3):412-418.   Published online March 15, 1999
MELAS(mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) syndrome is a major subgroup of mitochondrial myopathy. Recent advances in molecular genetics revealed specific mutations in mitochondrial DNA which cause MELAS. We described here clinical and molecular genetic findings of sister and brother with MELAS syndrome. For molecular genetic studies, DNAs from peripheral blood nucleated cells were used. And the substitution...
Case Report
A Case of FGFR2 Exon Ⅲc Mutation in Crouzon Syndrome
Seon Chan Bae, Eun Ha Lee, Moon Sung Park, Si Houn Hah, Chang Ho Hong
Clin Exp Pediatr. 1998;41(12):1717-1721.   Published online December 15, 1998
Crouzon syndrome, an autosomal dominant disorder, has characteristic features of craniosynostosis, hypertelorism, exophthalmos, maxillary hypoplasia and relative mandibular prognathism. Mutations of fibroblast growth factor receptor 2(FGFR2) gene are associated with craniosynostotic conditions, such as Crouzon syndrome, Jackson-Weiss syndrome, Pfeiffer syndrome, Apert syndrome and Beare-Stevenson cutis gyrata. We found one child with common morphological features of Crouzon syndrome. Interestingly, she...
Original Article
Molecular Genetic Diagnosis in Korean Patients with Myoclonic Epilepsy with Ragged Red Fiber(MERRF) Syndrome
Tae-Sung Ko, Sang-Ahm Lee, Gheeyoung Choe, Han-Wook Yoo
Clin Exp Pediatr. 1998;41(7):941-952.   Published online July 15, 1998
Purpose : Myoclonic epilepsy with ragged red fiber(MERRF) syndrome is a disease of the mitochondrial encephalomyopathies, characterized by progressive myoclonus(action), epilepsy, cerebellar ataxia, intention tremor, muscle weakness, progressive dementia, sensorineural hearing loss and optic atrophy. Its inheritance is maternally inherited mitochondrial mutation, and its pathologic finding is characterized by ragged red fibers(RRF). Biochemically its defects are diverse. This study was...
The Prevalence of A985G Mutation in Medium Chain Acyl-Coenzyme A Dehydrogenase(MCAD) Gene in Neonates Determined from Guthrie Card
Baeck Hee Lee, Hye Won Park, Moon Soo Park, Ho Jin Park, Yong Choi, Hae Il Cheong
Clin Exp Pediatr. 1997;40(12):1645-1650.   Published online December 15, 1997
Purpose : Medium chain acyl-CoA dehydrogenase(MCAD) deficiency is an autosomal recessive disoder of β oxidation of fatty acids and characterized by episodic hypoglycemia, vomiting, convulsion, encephalopathy, apnea, and sudden death related to fasting or infection resembling Reye syndrome or sudden infant death syndrome. In acute stage, mortality rate is very high and survivors have significant risk of developmental disability and chronic somatic illness. However,...
Pterin & DHPR Measurement and DNA Analysis in Korean PKU Patients
Chol Hee Chong, Hye Yong Lee, Dong Hwan Lee, Sang Jhoo Lee, Ki Weon Cha, Jeong Bin Yim, Yoshiyuki Okano
Clin Exp Pediatr. 1993;36(12):1681-1690.   Published online December 15, 1993
Phenylketonuria in metabolic disorder that results from a deficiency of the hepatic phenylalanine hydroxylase. But among patients with hyperphenylalaninemia, the defect resides in one of the enzymes necessary for production or recycling of tetrahydrobiopterin (BH4). The reduction of BH4 affects not only phenylalanine metabolism but also formation of the tyrosine related neurotransmitter, dopamin and tryptophan related neurotransmitter, serotonin. Administration of L-dopa...
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