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Original Article
Endocrinology
Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome
Kyo Jin Jo, Yoo Mi Kim, Ju Young Yoon, Yeoun Joo Lee, Young Mi Han, Han-Wook Yoo, Hyang-Sook Kim, Chong Kun Cheon
Clin Exp Pediatr. 2019;62(7):274-280.   Published online December 3, 2018

Purpose: To analyze the growth response to growth hormone (GH) therapy in prepubertal patients with Noonan syndrome (NS) harboring different genetic mutations. Methods: Twenty-three patients with prepubertal NS treated at Pusan National University Children’s Hospital between March 2009 and July 2017 were enrolled. According to the disease-causing genes identified, the patients with NS were divided into 4 groups. Three groups were...
Case Report
Genetics and Metabolism
A compound heterozygous mutation in the FMO3 gene: the first pediatric case causes fish odor syndrome in Korea
Ji Hyun Kim, Sung Min Cho, Jong-Hee Chae
Clin Exp Pediatr. 2017;60(3):94-97.   Published online March 27, 2017

Trimethylaminuria (TMAuria), known as “fish odor syndrome,” is a congenital metabolic disorder characterized by an odor resembling that of rotting fish. This odor is caused by the secretion of trimethylamine (TMA) in the breath, sweat, and body secretions and the excretion of TMA along with urine. TMAuria is an autosomal recessive disorder caused by mutations in flavin-containing monooxygenase 3 (FMO3)....

Endocrinology
A novel mutation of ABCC8 gene in a patient with diazoxide-unresponsive congenital hyperinsulinism
Ji Sook Park, Hong-Jun Lee, Chan-Hoo Park
Clin Exp Pediatr. 2016;59(Suppl 1):S116-S120.   Published online November 30, 2016

Congenital hyperinsulinism (CHI) is a rare condition that can cause irreversible brain damage during the neonatal period owing to the associated hypoglycemia. Hypoglycemia in CHI occurs secondary to the dysregulation of insulin secretion. CHI has been established as a genetic disorder of islet-cell hyperplasia, associated with a mutation of the ABCC8 or KCNJ11 genes, which encode the sulfonylurea receptor 1...

Nephrology (Genitourinary)
A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome
Hee-Won Cho, Sang Taek Lee, Heeyeon Cho, Hae Il Cheong
Clin Exp Pediatr. 2016;59(Suppl 1):S103-S106.   Published online November 30, 2016

Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations in CLCNKB encoding basolateral ClC-Kb. The clinical phenotype of patients with CLCNKB mutations has been known to be highly variable, and cases that are difficult to categorize as type III...

Immunology
A novel BTK gene mutation, c.82delC (p.Arg28 Alafs*5), in a Korean family with X-linked agammaglobulinemia
Jeongeun Lee, Minhee Rhee, Taek Ki Min, Hae In Bang, Mi-Ae Jang, Eun-Suk Kang, Hee-Jin Kim, Hyeon-Jong Yang, Bok Yang Pyun
Clin Exp Pediatr. 2016;59(Suppl 1):S49-S52.   Published online November 30, 2016

X-linked agammaglobulinemia (XLA) is a hereditary humoral immunodeficiency that results from Bruton’s tyrosine kinase (BTK) gene mutations. These mutations cause defects in B-cell development, resulting in the virtual absence of these lymphocytes from the peripheral circulation. Consequently, this absence leads to a profound deficiency of lg all isotypes, and an increased susceptibility to encapsulated bacterial infections. A 15-month-old Korean boy...

Review Article
Early-onset epileptic encephalopathies and the diagnostic approach to underlying causes
Su-Kyeong Hwang, Soonhak Kwon
Clin Exp Pediatr. 2015;58(11):407-414.   Published online November 22, 2015

Early-onset epileptic encephalopathies are one of the most severe early onset epilepsies that can lead to progressive psychomotor impairment. These syndromes result from identifiable primary causes, such as structural, neurodegenerative, metabolic, or genetic defects, and an increasing number of novel genetic causes continue to be uncovered. A typical diagnostic approach includes documentation of anamnesis, determination of seizure semiology, electroencephalography, and...

Case Report
A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1
Hye Jeong Jwa, Keon Su Lee, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim
Clin Exp Pediatr. 2014;57(9):416-419.   Published online September 30, 2014

X-linked adrenoleukodystrophy (X-ALD) is a rare peroxisomal disorder, that is rapidly progressive, neurodegenerative, and recessive, and characteristically primary affects the central nervous system white matter and the adrenal cortex. X-ALD is diagnosed basaed on clinical, radiological, and serological parameters, including elevated plasma levels of very long chain fatty acids (VLCFA), such as C24:0 and C26:0, and high C24:0/C22:0 and C26:0/C22:0...

A novel PRF1 gene mutation in a fatal neonate case with type 2 familial hemophagocytic lymphohistiocytosis
Jae Yeon Kim, Jeong Hee Shin, Se In Sung, Jin Kyu Kim, Ji Mi Jung, So Yoon Ahn, Eun Sun Kim, Ja-Young Seo, Eun-Sook Kang, Sun-Hee Kim, Hee-Jin Kim, Yun Sil Chang, Won Soon Park
Clin Exp Pediatr. 2014;57(1):50-53.   Published online January 31, 2014

Hemophagocytic lymphohistiocytosis (HLH) occurs in the primary form (genetic or familial) or secondary form (acquired). The familial form of HLH (FHL) is a potentially fatal autosomal recessive disorder that occurs because of constitutional defects in cell-mediated cytotoxicity. Here, we report a fatal neonatal case of type 2 FHL (FHL2) that involved a novel frameshift mutation. Clinically, the newborn presented with...

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 familial X-linked thrombocytopenia with a novel WAS gene mutation
Eu Kyoung Lee, Yeun-Joo Eem, Nack-Gyun Chung, Myung Shin Kim, Dae Chul Jeong
Clin Exp Pediatr. 2013;56(6):265-268.   Published online June 21, 2013

Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder. The WAS gene is located on the X chromosome and undergoes mutations, which affect various domains of the WAS protein, resulting in recurrent infection, eczema, and thrombocytopenia. However, the clinical features and severity of the disease vary according to the type of mutations in the WAS gene. Here, we describe the case...

Original Article
Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups
Ju-Young Lee, Beom Hee Lee, Gu-Hwan Kim, Chang-Woo Jung, Jin Lee, Jin-Ho Choi, Han-Wook Yoo
Clin Exp Pediatr. 2012;55(2):48-53.   Published online February 14, 2012
Purpose

Gaucher disease is caused by a β-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in the Korean population.

Methods

Clinical findings at diagnosis, GBA mutations, and clinical courses were reviewed in 20 patients diagnosed with Gaucher disease.

Results

Eleven patients were diagnosed with non-neuronopathic type, 2 with acute neuronopathic type,...

Case Report
Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations
Hunmin Kim, Hee Hwang, Hae Il Cheong, Hye Won Park
Clin Exp Pediatr. 2011;54(11):473-476.   Published online November 30, 2011

Primary hypokalemic periodic paralysis (HOKPP) is an autosomal dominant disorder manifesting as recurrent periodic flaccid paralysis and concomitant hypokalemia. HOKPP is divided into type 1 and type 2 based on the causative gene. Although 2 different ion channels have been identified as the molecular genetic cause of HOKPP, the clinical manifestations between the 2 groups are similar. We report the...

Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A
Ji-Yeon Han, June-Bum Kim
Clin Exp Pediatr. 2011;54(11):470-472.   Published online November 30, 2011

Familial hyperkalemic periodic paralysis (HYPP) is an autosomaldominant channelopathy characterized by transient and recurrent episodes of paralysis with concomitant hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene SCN4A have been reported to be responsible for this disease. Here, we report the case of a 16-year-old girl with HYPP whose mutational analysis revealed a heterozygous c.2111C>T substitution in the...

A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene
Jung Sook Ha, Yeo Hyang Kim
Clin Exp Pediatr. 2011;54(6):272-275.   Published online June 30, 2011

A recently recognized connective tissue disorder, Loeys-Dietz syndrome (LDS) is a genetic aortic aneurysm syndrome caused by mutations in the transforming growth factor-receptor type I or II gene (TGFBR1 or TGFBR2). They have distinctive phenotypic abnormalities including widely spaced eyes (hypertelorism), bifid uvula or cleft palate, and arterial tortuosity with aortic aneurysm or dissection throughout the arterial tree. LDS is...

Transient neonatal diabetes mellitus caused by a de novo ABCC8 gene mutation
Jung Hyun Kong, June Bum Kim
Clin Exp Pediatr. 2011;54(4):179-182.   Published online April 30, 2011

Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes mellitus that presents within the first 6 months of life with remission in infancy or early childhood. TNDM is mainly caused by anomalies in the imprinted region on chromosome 6q24; however, recently, mutations in the ABCC8 gene, which encodes sulfonylurea receptor 1 (SUR1), have also been implicated in TNDM....

A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation
Se Hee Kim, Byung Chan Lim, Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang
Clin Exp Pediatr. 2010;53(6):718-721.   Published online June 23, 2010

Rubinstein-Taybi syndrome (RTS) is a congenital disorder characterized by typical facial features, broad thumbs and toes, with mental retardation. Additionally, tumors, keloids and various congenital anomalies including congenital heart defects have been reported in RTS patients. In about 50% of the patients, mutations in the CREB binding protein (CREBBP) have been found, which are understood to be associated with cell...

Original Article
Direct detection of hemophilia B F9 gene mutation using multiplex PCR and conformation sensitive gel electrophoresis
Ki Young Yoo, Hee Jin Kim, Kwang Chul Lee
Clin Exp Pediatr. 2010;53(3):397-407.   Published online March 15, 2010
Purpose : The F9 gene is known to be the causative gene for hemophilia B, but unfortunately the detection rate for restriction fragment length polymorphism-based linkage analysis is only 55.6%. Direct DNA sequencing can detect 98% of mutations, but this alternative procedure is very costly. Here, we conducted multiplex polymerase chain reactions (PCRs) and conformation sensitive gel electrophoresis (CSGE) to...
Case Report
Two cases of Fabry disease identified in brothers
Ji Eun Cho, Yong Hee Hong, Yang Gyun Lee, Han Wook Yoo, Dong Hwan Lee
Clin Exp Pediatr. 2010;53(2):235-238.   Published online February 15, 2010
Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the α-galactosidase A (GLA) enzyme. We report two cases of Fabry disease in a 12-year-old boy who had acroparesthesia and in his elder brother with milder symptoms who were diagnosed by GLA activity assays and the presence of the GLA gene...
Original Article
Detection of genetic mutations associated with macrolide resistance of Mycoplasma pneumoniae
Chi Eun Oh, Eun Hwa Choi, Hoan Jong Lee
Clin Exp Pediatr. 2010;53(2):178-183.   Published online February 15, 2010
Purpose : The aim of this study was to identify mutations associated with macrolide resistance in Mycoplasma pneumoniae (MP) and to establish a cultural method to determine antimicrobial susceptibility. Methods : Nasopharyngeal aspirates (NPAs) were collected from 62 children diagnosed with MP pneumonia by a serologic method or polymerase chain reaction. The 23S rRNA and L4 ribosomal protein genes of MP...
Case Report
A Korean familial case of hereditary complement 7 deficiency
Moon Kyu Ki, Kyung Yul Lee, Jun Hwa Lee
Clin Exp Pediatr. 2009;52(6):721-724.   Published online June 15, 2009
Meningococcal infections can be associated with abnormalities of the complement system, which contains 5 terminal complement proteins. Furthermore, deficiencies in 1 of these 5, complement component 7 (C7), leads to the loss of complement lytic function, and affected patients show increased susceptibility to recurrent meningococcal meningitis and systemic Neisseria gonorrhoeae infection. In September 2003, an 11-year-old female patient presented at...
An Arg1239His mutation of the CACNL1A3 gene in a Korean family with hypokalemic periodic paralysis
Chae Young Yeo, Young Ok Kim, Myeong Kyu Kim, Ji Youn Kim, Young Kuk Cho, Chan Jong Kim, Young Jong Woo
Clin Exp Pediatr. 2008;51(7):771-774.   Published online July 15, 2008
Familial hypokalemic periodic paralysis (hypoPP) is a rare inherited channelopathy that often presents with episodic weakness accompanied by hypokalemia. Thus far, mutations in the gene encoding two ion channels (CACNL1A3, L-type calcium channel alpha-1 subunit and SCN4A, a sodium channel type IV alpha subunit) have been identified. Several cases of familial hypoPP in children have been reported in Koreans, but...
Basal cell nevus syndrome (gorlin syndrome) confirmed by PTCH mutations and deletions
Hee Moon Kim, Chul Hee Lee, Sung Koo Kim, Tae Jung Sung
Clin Exp Pediatr. 2007;50(8):789-793.   Published online August 15, 2007
Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is a rare autosomal dominant disorder characterized by variable manifestations, including multiple basal cell carcinomas, odontogenic keratocysts of the jaw, skeletal anomalies including scoliosis and bifid ribs, palmar and plantar pits, calcification of the falx cerebri, and biparietal frontal bossing. We report a case of a 9-year-old boy with the...
Original Article
Jagged1 mutation analysis in Alagille syndrome patients
Jae Sung Ko, Hye Ran Yang, Kyung Mo Kim, Jeong Kee Seo
Clin Exp Pediatr. 2006;49(5):519-522.   Published online May 15, 2006
Purpose : Alagille syndrome is an autosomal dominant disorder with developmental abnormalities affecting the liver, heart, eyes, vertebrae, and craniofacial region. The Jagged1(JAG1) gene, which encodes a ligand of Notch, has been found mutated in Alagille syndrome. The aim of the study was to investigate the mutation analysis of JAG1 gene in Korean patients with Alagille syndrome. Methods : Genomic DNA...
Clinical Findings of Genotypes in Korean Patients with Glycogen Storage Disease Type Ia
Jae Sung Ko, Hye Ran Yang, Jong Won Kim, Jeong Kee Seo
Clin Exp Pediatr. 2005;48(8):877-880.   Published online August 15, 2005
Purpose : Glycogen storage disease type Ia(GSD Ia) is an autosomal recessive disorder caused by the deficiency of glucose-6-phosphatase(G6Pase). The aim of the study was to investigate the spectrum of G6Pase gene mutations and relationship between genotype and clinical findings in Korean patients with GSD Ia. Methods : Genomic DNA was extracted from peripheral leukocytes of 20 patients with GSD...
Case Report
A Case of Wiskott-Aldrich Syndrome with Novel Mutation in Exon 2 of the WASP Gene
Hyuk Lee, Jung In Park, Sun Young Kim,, Kyeung Hee Moon, Ho Keun Yi, Pyoung Han Hwang
Clin Exp Pediatr. 2005;48(5):551-556.   Published online May 15, 2005
Wiskott-Aldrich syndrome(WAS) is an X-linked recessive immunodeficiency characterized by thrombocytopenia with small platelet volume, eczema, and recurrent infections, and is also characterized by increased incidence of auto immune diseases and malignancies. The phenotype observed in this syndrome is caused by mutation in the Wiskott-Aldrich syndrome protein(WASP) gene localized to the proximal short arm of the X chromosome and recently isolated...
Hyperthyroidism Caused by a Mutation in the Thyrotropin Receptor Gene in Two Brothers
Jae Hyun Kim, Sung Soo Lee, Jung Sub Lim, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2005;48(3):337-341.   Published online March 15, 2005
Thyrotropin receptor(TSHR) mutations must be considered when congenital hyperthyroidism has persisted, but there has been no evidence for autoimmunity. TSHR mutations leading to constitutive activation of the thyroid gland were identified as the molecular cause of autosomal dominant nonautoimmune hyperthyroidism and sporadic congenital hyperthyroidism. We report two cases of hyperthyroidism caused by germline TSHR mutation who presented with exessive sweating...
A Case of Asymptomatic 3-methylcrotonylglycinuria Detected by Tandem Mass Spectrometry in Newborn Screening
Jin Kyung Kim
Clin Exp Pediatr. 2004;47(8):912-916.   Published online August 15, 2004
3-Methylcrotonylglycinuria is an autosomal recessive inborn error of leucine catabolism that results from the deficiency of 3-methylcrotonyl-CoA carboxylase(3-MCC). In 3-MCC deficiency 3-methylcrotonyl-CoA, may form glycine and carnitine conjugates. The primary metabolites are 3-hydroxyisovaleric acid(3-HIVA), 3-hydroxyisovaleryl carnitine(3-HIVC) and 3-methylcrotonylglycine(3-MCG). 3-hydroxyisovaleric acid(3-HIVA) and 3-methylcrotonylglycine(3-MCG) are increased in urine, and 3-hydroxyisovaleryl carnitine(3-HIVC) is found in blood and urine. 3-MCC is one of the...
A Case of Congenital Partial Nephrogenic Diabetes Insipidus
Eun Ha Mo, In Hye Nam, Min Ja Chung, Jae Hong Yu
Clin Exp Pediatr. 2002;45(7):902-905.   Published online July 15, 2002
The most common form of genetic nephrogenic diabetes insipidus(NDI), a rare inherited disorder, is congenital and is transmitted in an X-linked recessive mode. It is refractory to the antidiuretic effect of normal to moderately increased levels of plasma arginine vasopressin(AVP) but, in some cases, may respond to high levels of the hormone or its analogue, deamino-D-arginine vasopressin(DDAVP). X-linked congenital NDI...
A Case of Rett Syndrome with MECP2 Gene Mutation
Jin Kyung Kim, Chang Seok Ki, Jong Won Kim
Clin Exp Pediatr. 2002;45(4):540-544.   Published online April 15, 2002
Rett syndrome is an X-linked dominant, progressive neurodevelopmental disorder, with a prevalence estimated to be one in 10,000-15,000 girls, which is thought to be the second most common genetic causes of mental retardation in females after Down syndrome. Patients with classic Rett syndrome show an apparently normal neonatal period, followed by developmental regression and deceleration of head growth, accompanied by...
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