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One Korean Patient with a Family History of BRCA1-associated Ovarian Cancer.

Seon Hee YIM ; Keun Ho LEE ; Ah Won LEE ; Eun Sun JUNG ; Yeong Jin CHOI

Journal of Genetic Medicine.2009;6(2):179-182.

Germline mutations in BRCA1 and BRCA2 confer high risks of breast and ovarian cancer. Among BRCA1- and BRCA2- mutation carriers, the average cumulative risks for ovarian cancer by age 70 years were 39% and 11%, respectively. There are other hereditary cancer syndromes such as Hereditary nonpolyposis colorectal cancer also confer a higher risk for developing ovarian cancer, but over 90% of all hereditary ovarian cancers are thought to be associated with BRCA1 or BRCA2 mutations. This report concerns a Korean woman diagnosed with ovarian cancer present with a family history of ovarian and various other cancers, in whom a germline BRCA1 mutation was identified and the same mutation was found in one of two daughters of her's. Since there could be more hereditary ovarian cancer patients in Korean than clinicians thought, both primary and secondary prevention of ovarian cancer based on family history and genetic information is important to reduce cancer incidence and mortality.
Breast ; Colorectal Neoplasms, Hereditary Nonpolyposis ; Female ; Germ-Line Mutation ; Humans ; Incidence ; Neoplastic Syndromes, Hereditary ; Nuclear Family ; Ovarian Neoplasms ; Secondary Prevention

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Prenatal Diagnosis of the 22q11.2 Duplication Syndrome.

Moon Hee LEE ; So Yeon PARK ; Bom Yi LEE ; Eun Young CHOI ; Jin Woo KIM ; Ju Yeon PARK ; Yeon Woo LEE ; Ah Rum OH ; Shin Young LEE ; Jae Hyug YANG ; Hyun Mee RYU

Journal of Genetic Medicine.2009;6(2):175-178.

The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from normal to congenital defects and learning disabilities. Recently, the detection rate of 22q11.2 duplication has been increased by molecular techniques, such as array CGH. In this study, we report a familial case of 22q11.2 duplication detected prenatally. Her first pregnancy was terminated because of 22q11.2 duplication detected incidentally by BAC array CGH. The case was referred due to second pregnancy with same 22q11.2 duplication. We perfomed repeat amniocentesis for karyotype and FISH analysis. Karyotype analysis from amniocytes and parental lymphocytes were normal, while FISH analysis of interphase cells presented a duplication of 22q11.2 in the fetus and phenotypically normal mother. The fetal ultrasound showed grossly normal finding. After genetic counseling about variable phenotype with intrafamilial variability with 50% recurrence rate, the couple decided to continue the pregnancy. The newborn had no apparent congenital abnormalities until 2 weeks after birth. We recommend that family members of patients with a 22q11.2 duplication be tested by the interphase FISH analysis. Also, we point out the importance of genetic counseling and an evaluation of the clinical relevance of diagnostic test results.
Amniocentesis ; Congenital Abnormalities ; Diagnostic Tests, Routine ; Fetus ; Genetic Counseling ; Humans ; Infant, Newborn ; Interphase ; Karyotype ; Learning Disorders ; Lymphocytes ; Mothers ; Parents ; Phenotype ; Pregnancy ; Prenatal Diagnosis ; Recurrence

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A Case of Dihydropteridine Reductase Deficiency.

Se Jung OH ; Yong Hee HONG ; Yong Wha LEE ; Seung Tae LEE ; Chang Seok KI ; Dong Hwan LEE

Journal of Genetic Medicine.2009;6(2):170-174.

Tetrahydrobiopterin (BH4) deficiency is caused by mutations in genes encoding enzymes involved in the synthesis and regeneration of BH4. The condition is usually accompanied by hyperphenylalaninemia (HPA) and deficiency of neurotransmitter precursors L-dopa and 5-hydroxytryptophan. BH4 deficiency is much rarer than classical phenylketonuria. Dihydropteridine reductase (DHPR) deficiency, an autosomal recessive genetic disorder, is a cause of malignant hyperphenylalaninemia due to BH4 deficiency. When left untreated, DHPR deficiency leads to neurologic deterioration at the age of 4 or 5 months, including psychomotor retardation, tonicity disorders, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. Treatment of DHPR deficiency should be initiated as early as possible with BH4 supplementation and replacement of the neurotransmitter precursors L-dopa and 5-hydroxytryptophan. We report the first case of DHPR deficiency in Korea, a child diagnosed at 9 years of age by genetic testing.
5-Hydroxytryptophan ; Biopterin ; Child ; Deglutition ; Dihydropteridine Reductase ; Dyskinesias ; Fever ; Genetic Testing ; Humans ; Korea ; Levodopa ; Neurotransmitter Agents ; Phenylketonurias ; Regeneration ; Sialorrhea ; Sleep Stages

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A Floppy Baby with Congenital Myotonic Dystrophy Complicated with Huge Subgaleal Hematoma Occurring in Non-instrumental Vaginal Delivery.

Shin Young YIM ; Kye Hee CHO ; Jae Young KIM ; Ji Yeon HONG ; Il Yung LEE

Journal of Genetic Medicine.2009;6(2):166-169.

Not only is the concurrence of congenital myotonic dystrophy (CDM) and subgaleal hematoma (SGH) hardly ever seen but also the development of SGH during unassisted vaginal delivery is rare. We report a boy who developed huge SGH in vaginal delivery without any use of vacuum or forceps and later was diagnosed as maternally transmitted CDM. The boy had prenatal history of polyhydramnios and decreased fetal movement. Six hours after birth, severe molding of the skull associated with huge SGH on left parieto-occipital area was recognized by CT scan. At corrected age of two months, he was diagnosed as maternally transmitted CDM. This is the first report of CDM complicated by SGH occurring in non-instrumental vaginal delivery.
Fetal Movement ; Fungi ; Hematoma ; Myotonic Dystrophy ; Parturition ; Polyhydramnios ; Skull ; Surgical Instruments ; Vacuum

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Two Patients with Atypical Infantile Pompe Disease Presenting with Hypertrophic Cardiomyopathy.

Eun Hee KIM ; Jung Min KO ; Beom Hee LEE ; Gu Hwan KIM ; Jin Ho CHOI ; Han Wook YOO

Journal of Genetic Medicine.2009;6(2):161-165.

Pompe disease (glycogen storage disease type II) is an autosomal recessive disorder caused by deficiency of acid-alpha-glucosidase (GAA) resulting in lysosomal glycogen accumulation in multiple tissue, particularly cardiac and skeletal muscle. The classic infantile form of Pompe disease is characterized by marked cardiomegaly, respiratory failure and severe generalized hypotonia. Most patients die from cardiorespiratory failure or respiratory infection within the first year or two of life without treatment. A "non-classic" phenotype presents with less severe clinical feature and slow progression of disease. We report two patients with non-classic infantile Pompe disease from one family manifested hypertrophic cardiomyopathy and progressive proximal weakness.
Cardiomegaly ; Cardiomyopathy, Hypertrophic ; Glycogen ; Glycogen Storage Disease Type II ; Humans ; Muscle Hypotonia ; Muscle, Skeletal ; Phenotype ; Respiratory Insufficiency

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Tumor Necrosis Factor-alpha Gene Polymorphism (C-850T) in Korean Patients with Preeclampsia.

Ji Hyae LIM ; Shin Young KIM ; So Yeon PARK ; Ho Won HAN ; Jae Hyug YANG ; Moon Young KIM ; Hyun Young PARK ; Kwang Soo LEE ; Young ju KIM ; Hyun Mee RYU

Journal of Genetic Medicine.2009;6(2):155-160.

PURPOSE: Preeclampsia is a multisystem human pregnancy-specific disorder. The pathophysiology of preeclampsia is linked with over-stimulation of inflammatory cytokines by placental ischemia via reduced uterine perfusion pressure during pregnancy. Although an increase in tumor necrosis factor (TNF)-alpha has been reported in preeclamptic women, there is little evidence of a relationship between TNF-alpha gene variations and preeclampsia. In this study, we identified a single-nucleotide polymorphism (SNP), C-850T, in the TNF-alpha gene promoter region in Korean preeclamptic women and investigated the association between this SNP and the development of preeclampsia. MATERIALS AND METHODS: This polymorphism was analyzed in peripheral blood samples from 198 preeclamptic pregnancies and 194 normotensive pregnancies using a SNapShot kit and an ABI Prism 3100 Genetic analyzer. RESULTS: Genotypes and allele frequencies for C-850T did not differ between preeclamptic and normotensive pregnancies. The distributions of genotypes (CC, CT and TT) were 74.3%, 22.2% and 3.5%, respectively, in preeclamptic pregnancies, and 71.6%, 25.8% and 2.6%, respectively, in normotensive pregnancies. The frequencies of the C and T alleles were 0.85 and 0.15 in preeclamptic pregnancies and 0.84 and 0.16 in normotensive pregnancies, respectively. There was no increased risk of preeclampsia in subjects with the CT (OR, 0.83; P=0.44) or TT genotypes (OR, 1.32; P=0.64). CONCLUSION: We found no differences in the genotypes or allele frequencies of the TNF-alpha gene polymorphism between preeclamptic and normotensive pregnancies. This study suggests that the TNF-alpha gene polymorphism may be not associated with the development of preeclampsia in pregnant Korean women.
Alleles ; Cytokines ; Female ; Gene Frequency ; Genotype ; Humans ; Ischemia ; Perfusion ; Pre-Eclampsia ; Pregnancy ; Promoter Regions, Genetic ; Tumor Necrosis Factor-alpha

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MLPA Applications in Genetic Testing.

Gu Hwan KIM ; Beom Hee LEE ; Han Wook YOO

Journal of Genetic Medicine.2009;6(2):146-154.

Multiplex ligation dependent probe amplification (MLPA) is a PCR-based method to detect gene dosage. Since its introduction, MLPA has been used to test a large number of genes for major deletions or duplications. Genetic testing, as a diagnostic tool for genetic disease, has been used primarily to identify point mutations, including base substitutions and small insertions/deletions, using PCR and sequence analysis. However, it is difficult to identify large deletions or duplications using routine PCR- gel based assays, especially in heterozygotes. The MLPA is a more feasible method for identification of gene dosage than another routine PCR-based methods, and better able to detect deleterious deletions or duplications. In addition to detection of gene dosage, MLPA can be applied to identify methylation patterns of target genes, aneuploidy during prenatal diagnoses, and large deletions or duplications that may be associated with various cancers. The MLPA method offers numerous advantages, as it requires only a small amount of template DNA, is applicable to a wide variety of applications, and is high-throughput. On the other hand, this method suffers from disadvantages including the possibility of false positive results affected by template DNA quality, difficulties identifying SNPs located in probe sequences, and analytical complications in quantitative aspects.
Aneuploidy ; DNA ; Gene Dosage ; Genetic Testing ; Hand ; Heterozygote ; Methylation ; Multiplex Polymerase Chain Reaction ; Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Prenatal Diagnosis ; Sequence Analysis

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Preimplantation Genetic Diagnosis for Single Gene Disorders.

Hyoung Song LEE ; Min Jee KIM ; Inn Soo KANG

Journal of Genetic Medicine.2009;6(2):131-145.

Preimplantation genetic diagnosis (PGD) has become an assisted reproductive technique for couples who are at risk that enables them to have unaffected baby without facing the risk of pregnancy termination after invasive prenatal diagnosis. The molecular biology and technology for single-cell genetics has reached an extremely high level of accuracy, and has enabled the possibility of performing multiple diagnoses on one cell using whole genome amplification. These technological advances have contributed to the avoidance of misdiagnosis in PGD for single gene disorders. Polymerase chain reaction (PCR)-based PGD will lead to a significant increase in the number of disorders diagnosed and will find more widespread use, benefiting many more couples who are at risk of transmitting an inherited disease to their baby. In this review, we will focus on the molecular biological techniques that are currently in use in the most advanced centers for PGD for single gene disorders, including biopsy procedure, multiplex PCR and post-PCR diagnostic methods, and multiple displacement amplification (MDA) and the problems in the single cell genetic analysis.
Biopsy ; Diagnostic Errors ; Displacement (Psychology) ; Family Characteristics ; Genome ; Molecular Biology ; Multiplex Polymerase Chain Reaction ; Polymerase Chain Reaction ; Pregnancy ; Preimplantation Diagnosis ; Prenatal Diagnosis ; Prostaglandins D ; Reproductive Techniques, Assisted

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Genetic Polymorphisms in Patients with Endometriosis in the Korean Population.

Gyeong Hun LEE ; Young Min CHOI

Journal of Genetic Medicine.2009;6(2):121-130.

To analyze a wide variety of polymorphisms in patients with endometriosis is important since this disease has a strong genetic component. Until now, more than 30 Korean studies have been performed in order to elucidate the possible role of specific polymorphisms in the susceptibility to endometriosis. The most meaningful polymorphisms in Korean patients with endometriosis came from studies investigating GSTM1, AhRR, ER-alpha, VEGF, AHSG, and TNF-alpha. However, following studies should be made to confirm the consistency of the data to have some implications in the prediction of endometriosis. In this review, we also present the future direction of the association studies in complex trait disease such as endometriosis.
Endometriosis ; Female ; Humans ; Polymorphism, Genetic ; Porphyrins ; Tumor Necrosis Factor-alpha ; Vascular Endothelial Growth Factor A

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DNA Testing for Fragile X Syndrome in School for Emotionally Severely Handicapped Children in Korea.

Sungdo David HONG ; Soyoung LEE ; Myung Ryurl OH ; Dong Kyu JIN

Journal of Genetic Medicine.1998;2(2):83-86.

Though Fragile X syndrome is one of the most common inherited causes of mental retardation, it is not much detected yet in Korean population. One of the reason may be that the syndrome is not well known to the special education teachers as well as to the clinicians in this country. Thus, molecular test was undertaken to screen out fragile X syndrome in 122 children of two Korean schools for emotionally severely handicapped children. The subjects were all boys, previously known as having pervasive developmental disorder with or without mental retardation. Southern blot analysis of peripheral blood showed the abnormally enlarged (CGG)n repeat sequence associated with fragile X syndrome in two children. This finding suggests that the DNA testing for fragile X syndrome is warranted for Korean high risk population and that more concern about this syndrome is needed for the professionals who work for mentally handicapped children. The issues involved in genetic counseling for fragile X syndrome are discussed.
Blotting, Southern ; Child ; Disabled Children* ; Disabled Persons* ; DNA* ; Education, Special ; Fragile X Syndrome* ; Genetic Counseling ; Humans ; Intellectual Disability ; Korea* ; Mentally Disabled Persons

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