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Case Report
Nephrology (Genitourinary)
De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea
Kyoung Hee Han, Jong Eun Park, Chang-Seok Ki
Clin Exp Pediatr. 2019;62(5):193-197.   Published online November 26, 2018
Alport syndrome (ATS) is an inherited glomerular disease caused by mutations in one of the type IV collagen novel chains (α3, α4, and α5). ATS is characterized by persistent microscopic hematuria that starts during infancy, eventually leading to either progressive nephritis or end-stage renal disease. There are 3 known genetic forms of ATS, namely X-linked ATS, autosomal recessive ATS, and...
Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome
Yeonkyung Kim, Ho-Seok Lee, Jung-Seok Yu, Kangmo Ahn, Chang-Seok Ki, Jihyun Kim
Clin Exp Pediatr. 2014;57(1):46-49.   Published online January 31, 2014

CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical manifestations. It is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. The major clinical features are ocular coloboma, heart malformations, atresia of the choanae, growth retardation, genital hypoplasia, and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene, located...

A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome
Soo Jin Kim, Sung Yoon Cho, Se Hyun Maeng, Young Bae Sohn, Su-Jin Kim, Chang-Seok Ki, Dong-Kyu Jin
Clin Exp Pediatr. 2013;56(8):355-358.   Published online August 27, 2013

Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disability, and multiple congenital abnormalities. KS is inherited in an autosomal dominant manner. As the primary cause of KS, MLL2 mutations have been identified in 56-76% of affected individuals who have been tested, suggesting that there may be additional genes associated with KS. Recently, a few...

A case of glycogen storage disease type Ib
Moon-Sun Kim, Jae-Bok Park, Chang-Seok Ki, Jin-Kyung Kim
Clin Exp Pediatr. 2009;52(12):1383-1387.   Published online December 15, 2009
We report a case of an 18-month-old girl with glycogen storage disease type Ib (GSD Ib). Her neutrophil counts had gradually decreased to less than 500/µL by the age of 3 years. However, there were no recurrent bacterial infections. Mutation analysis of the glucose-6-phosphate translocase (G6PT) gene revealed a compound heterozygous missense mutation (Ala148Val/Gly273Asp).
A case of two sisters births from mother with phenylketonuria lacking mental retardation
Chang-Seok Ki, Jin Kyung Kim
Clin Exp Pediatr. 2008;51(5):546-550.   Published online May 15, 2008
In this untreated classic phenylketonuria (PKU) case, mental retardation is severe; however, there have been individuals­like the mother of this case­who have escaped mental retardation and all the other potential sequelae of phenylketonuria, despite having high blood phenylalanine levels, and very poor dietary control. It appears that they have nearly normal brain phenylalanine levels despite high blood phenylalanine (Phe) levels....
Original Article
Clinical characteristics of congenital myotonic dystrophy diagnosed by molecular genetic method
Sook Hyun Nam, Young Bae Son, Bo Lyun Lee, Jeehun Lee, Chang-seok Ki, Munhyang Lee
Clin Exp Pediatr. 2007;50(9):868-874.   Published online September 15, 2007
Purpose : We performed this study to investigate the perinatal and developmental features of the patients with congenital myotonic dystrophy (CDM) confirmed by the molecular genetic method and the clinical characteristics of their mother, and to identify the relation between the number of CTG repeats and the clinical severity. Methods : A retrospective review of the medical records and the results...
Case Report
Identification of a de novo mutation (H435Y) in the THRB gene in a Korean patient with resistance to thyroid hormone
Jin Young Shin, Chang-Seok Ki, Jin Kyung Kim
Clin Exp Pediatr. 2007;50(6):576-579.   Published online June 15, 2007
The syndrome of resistance to thyroid hormone (RTH) is characterized by reduced tissue sensitivity to thyroid hormone (TH). In the majority of subjects, RTH is caused by mutations in the thyroid hormone receptor beta (TRβ) gene, located on the chromosome locus 3p24.3. RTH is inherited in an autosomal dominant manner. The clinical presentation of RTH is variable, but common features...
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