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A study on association of progesterone receptor gene polymorphism (PROGINS) with Endometriosis.

Yun Jin KIM ; Ji Hyun NOH ; Jae Whoan KOH ; Yong Bong KIM

Journal of Genetic Medicine.2007;4(2):128-132.

PURPOSE: Endometriosis is a steroid dependent disease with a particular genetic background but the location of possible genomic aberrations are still poorly clarified. This study was designed to investigate the associations between the polymorphism of the progesterone receptor gene (PROGINS) and endometriosis. METHODS: 100 women with surgically diagnosed and histologically confirmed endometriosis were enrolled as a patient population and a total of 110 female control subjects undergoing health examination were enrolled as control population. DNA extraction and polymerase chain reaction (PCR) were used to genotype women for the presence of the PROGINS polymorphism in peripheral blood samples. The x2-test was used to compare genotype distributions between endometriosis and controls. RESULTS: T1/T2 heterozygote was found to be one patient in each group, and the rest of the subjects were all T1/T1 homozygotes. There was no difference in the genotype distribution between the endometriosis group and the control group. CONCLUSION: These results suggest that the progesterone receptor gene PROGINS is not associated with the risk for endometriosis.
DNA ; Endometriosis* ; Female ; Genotype ; Heterozygote ; Homozygote ; Humans ; Polymerase Chain Reaction ; Progesterone* ; Receptors, Progesterone*

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DNA testing in inherited neuromuscular disorders: a case-based approach and quality assurance.

Han Wook YOO

Journal of Genetic Medicine.2007;4(2):122-127.

No abstract available.
DNA*

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DNA diagnostic testing in hereditary motor and sensory neuropathies.

Byung Ok CHOI

Journal of Genetic Medicine.2007;4(2):115-121.

Hereditary motor and sensory neuropathy (HMSN; Charcot-Marie-Tooth disease, CMT) was first described by Charcot and Marie in France and, independently, by Tooth in England in 1886. HMSN is the most common form of inherited motor and sensory neuropathy, and is a genetically heterogeneous disorder of the peripheral nervous system. Using positional cloning methods, the chromosomal localization (locus) of more than 40 inherited peripheral neuropathies was found in the last 15 years. However, these genetic analyses also show that many entities do not show linkage to the known loci. This issue deals with a clinical survey of inherited peripheral neuropathies regarding diagnostic approaches based on the molecular findings.
Charcot-Marie-Tooth Disease ; Clone Cells ; Cloning, Organism ; Diagnosis ; Diagnostic Tests, Routine* ; DNA* ; England ; France ; Hereditary Sensory and Motor Neuropathy* ; Peripheral Nervous System ; Peripheral Nervous System Diseases ; Tooth

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Identification of Novel Compound Heterozygous Mutations in the ACADS Gene of an Asymptomatic Korean Newborn with Short Chain Acyl-CoA Dehydrogenase Deficiency by Tandem Mass Spectrometry.

Chong Kun CHEON ; Hyung Soon CHOI ; Su Yung KIM ; Han Wook YOO ; Gu Hwan KIM

Journal of Genetic Medicine.2012;9(1):42-46. doi:10.5734/JGM.2012.9.1.42

Short-chain acyl-CoA dehydrogenase deficiency (SCADD; OMIM # 201470) is an autosomal recessive inborn error of mitochondrial fatty acid beta-oxidation, presenting with a variety of clinical signs and symptoms. Developmental delay, hypertonia or hypotonia, ketotic hypoglycemia, and epilepsy are most frequently reported. In general, patients diagnosed through newborn screening have shown normal growth and development in contrast to those diagnosed as a result of clinically initiated evaluations. Here, the case of an asymptomatic Korean newborn with SCADD identified by tandem mass spectrometry is reported. The patient showed an elevated concentration of butyrylcarnitine detected on newborn screening. Urinary excretion of ethylmalonic acid was elevated by urine organic acid analysis. To confirm the diagnosis of SCADD, a direct sequencing analysis of 10 coding exons and the exon-intron boundaries of the ACADS gene were performed. Genetic analysis of ACADS showed the following novel compound heterozygous missense mutations: c.277C>A (p.Leu93Ile) on exon3 and c.682G>A (p.Glu288Lys) on exon6. These results will provide further evidence of mutational heterogeneity for SCADD.
Acyl-CoA Dehydrogenase ; Butyryl-CoA Dehydrogenase ; Carnitine ; Clinical Coding ; Databases, Genetic ; Epilepsy ; Exons ; Growth and Development ; Humans ; Hypoglycemia ; Infant, Newborn ; Malonates ; Mass Screening ; Muscle Hypotonia ; Population Characteristics ; Tandem Mass Spectrometry

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A Korean Family with Cholesterol Ester Transfer Protein Deficiency.

Seo Young YOUN ; Ik Soon SHIN ; Yong Hee HONG ; Dong Hwan LEE

Journal of Genetic Medicine.2012;9(1):38-41. doi:10.5734/JGM.2012.9.1.38

A 32-year-old female patient and her sister show high levels of high density lipoprotein (HDL) cholesterol in regular health checkups, since female patient was 11 years old. The patient's serum total cholesterol was 285 mg/dL and HDL cholesterol was 113 mg/dL. Her sister's total cholesterol was 240 mg/dL and the HDL cholesterol measured to be 90 mg/dL. Lipoprotein pattern and cholesteryl ester transfer activity gene analysis were examined in these patients. We found c.1321+1G>A (IVS14+1G/A) hetero mutation in cholesteryl ester transfer protein (CETP) genes. Generally, CETP mediates transfer and exchange of triglycerides and cholesteryl ester between plasma lipoproteins. Also we investigated a key role of HDL-CE and Apo A-1 metabolism. Patients with low levels of CETP have increased serum HDL levels. We hereby report two Korean cases of CETP deficiency in a family. Brief literature review ensues with the cases.
Adult ; Apolipoprotein A-I ; Cholesterol ; Cholesterol Ester Transfer Proteins ; Cholesterol, HDL ; Female ; Humans ; Hypercholesterolemia ; Lipid Metabolism, Inborn Errors ; Lipoproteins ; Plasma ; Protein Deficiency ; Siblings ; Triglycerides

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A Case with Emanuel Syndrome Resulting from a Maternal Balanced Translocation.

Ja Hye KIM ; Yoo Mi KIM ; Beom Hee LEE ; Ja Hyung KIM ; Eul Ju SEO ; Han Wook YOO

Journal of Genetic Medicine.2012;9(1):35-37. doi:10.5734/JGM.2012.9.1.35

Emanuel syndrome is a rare genomic syndrome which is characterized by multiple congenital anomalies and developmental disability. This syndrome is related to the presence of the supernumerary derivative chromosome originating from both chromosome 11 and 22. In most cases, one of the parents is a balanced carrier of a translocation. Our case results from 3:1 meiotic segregation of the maternal translocation carrier and is a rare case in Korea confirmed by genetic analysis.
Chromosome Disorders ; Chromosomes, Human, Pair 11 ; Cleft Palate ; Congenital Abnormalities ; Developmental Disabilities ; Heart Defects, Congenital ; Humans ; Intellectual Disability ; Korea ; Muscle Hypotonia ; Parents

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A Case with Spondyloepiphyseal Dysplasia Tarda with TRAPPC2 Mutation.

Hyun Jin KIM ; Beom Hee LEE ; Yoo Mi KIM ; Gu Hwan KIM ; Ok Hwa KIM ; Han Wook YOO

Journal of Genetic Medicine.2012;9(1):31-34. doi:10.5734/JGM.2012.9.1.31

Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked skeletal dysplasia. Patients show disproportionate short stature with short trunk and barrel-shaped chest, which usually become pronounced in late childhood. The radiologic findings are characterized by narrow intervertebral disc spaces and moderate epiphyseal dysplasia of long bones. Here we report a case of SEDT with a novel frameshift mutation in TRAPPC2, the disease-causing gene of SEDT. This is the first Korean report with SEDT confirmed by genetic testing.
Frameshift Mutation ; Genetic Testing ; Humans ; Intervertebral Disc ; Osteochondrodysplasias ; Thorax

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Risk Reducing Surgery in Carriers with Double Heterozygosity for BRCA1 and BRCA2 Mutations.

Woo Sung HONG ; Ku Sang KIM ; Yong Sik JUNG ; Seok Yun KANG ; Doo Kyoung KANG ; Tae Hee KIM ; Hyunee YIM ; Mison CHUN ; Myong Chul PARK ; Suk Joon CHANG

Journal of Genetic Medicine.2012;9(1):25-30. doi:10.5734/JGM.2012.9.1.25

Among the treatment options for BRCA mutation carriers, risk reducing surgery is the most effective. However, this procedure has been rarely performed in Korea. Interestingly, our case showed double heterozygosity for BRCA1 and BRCA2 mutations. The patient was diagnosed with left renal cancer and left breast cancer at 45-years-of-age, 4 years before risk reducing surgery. The patient received left radical nephrectomy and left partial mastectomy with axillary lymph node dissection. After pretest counseling, the patient underwent genetic testing that identified BRCA1 and BRCA2 mutations. After post-test counseling, the patient decided on intensive surveillance. At 49-years-of-age, the patient was newly diagnosed with contralateral breast cancer. Treatment options were discussed once again. We performed bilateral total mastectomy with immediate reconstruction and prophylactic bilateral salpingo-oophorectomy after multidisciplinary discussion. The patient has been satisfied with the results of surgery. We think this procedure is a recommendable treatment option for BRCA mutation carriers.
Breast Neoplasms ; Counseling ; Genes, BRCA1 ; Genes, BRCA2 ; Genetic Testing ; Humans ; Kidney Neoplasms ; Korea ; Lymph Node Excision ; Mastectomy ; Mastectomy, Segmental ; Mastectomy, Simple ; Nephrectomy

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Fetal Loss Rate after Mid-trimester Amniocentesis.

You Jung HAN ; Yun Young KIM ; Si Won LEE ; Min Hyoung KIM ; Jin Hoon CHUNG ; Hyun Kyong AHN ; Jung Yeol HAN ; Moon Young KIM ; Jae Hyug YANG ; Kyu Hong CHOI ; So Yeon PARK ; Hyun Mee RYU

Journal of Genetic Medicine.2012;9(1):22-24. doi:10.5734/JGM.2012.9.1.22

PURPOSE: The aim of this study was to asses the fetal loss rate after mid-trimester amniocentesis. MATERIALS AND METHODS: This was a retrospective cohort study including singleton pregnant women who underwent mid-trimester amniocentesis at Cheil General Hospital from January 2008 through December 2010. The procedure-related fetal loss was defined as miscarriage within 2 weeks after amniocentesis. We evaluated the fetal loss rate within 2 weeks after amniocentesis and fetal loss rate before 24 gestational weeks. RESULTS: During the study period, a total of 4,356 singleton pregnant women underwent mid-trimester amniocentesis. A total of Five hundred ninety six women were excluded owing to follow up loss and termination of pregnancy due to abnormal karyotype or major anomaly. At our institute, the fetal loss rate within 2 weeks was 0.1% and before 24 gestational weeks was 0.3% after amniocentesis. CONCLUSION: The fetal loss rate after mid-trimester amniocentesis in our study is lower than previously reported rate. We suggest that amniocentesis is a safe procedure.
Abnormal Karyotype ; Abortion, Spontaneous ; Amniocentesis ; Cohort Studies ; Equidae ; Female ; Follow-Up Studies ; Hospitals, General ; Humans ; Pregnancy ; Pregnant Women ; Retrospective Studies

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Analysis of Parental Decisions Based on Sex Chromosome Abnormalities Detected Prenatally: A Ten-year update (2001-2010).

Gye Hyeong AN ; Kyu Hong CHOI ; Jae Hyug YANG ; Moon Young KIM ; Jung Yeol HAN ; So Yeon PARK ; Bom Yi LEE ; Da Eun LEE ; Hyun Mee RYU

Journal of Genetic Medicine.2012;9(1):17-21. doi:10.5734/JGM.2012.9.1.17

PURPOSE: The aim of this study was to analyze parental decisions regarding pregnancies in which the fetus had sex chromosome abnormalities (SCA) over a ten-year period. MATERIALS AND METHODS: We collected and reviewed records from our hospital for 2001-2010 and a genetic specialist provided-genetic counseling. RESULTS: We diagnosed 130 cases (0.71%) with SCA out of 18,376 prenatal cases from 2001 to 2010. We reviewed the records and the results of all pregnancies. We also included cases (n=84) of apparently normal anatomic fetuses to analyze the factors influencing parental decisions. We excluded 34 cases with an obvious anomaly or a presumably bad outcome and 12 cases that were not followed up. Forty-three couples (51.2%) continued their pregnancies while forty-one (48.8%) terminated them. Of 38 mosaicism cases, 21 (55.3%) were continued. Among the 20 pregnancies assisted by reproductive techniques, 15 (75%) were continued (P=0.02). More pregnancies were continued when genetic counseling was provided (61.9%) compared to cases in which it was not provided (19%) (P=0.01). CONCLUSION: Genetic counseling is important in providing appropriate information to parents. Establishing guidelines and protocols will help both obstetricians and parents to make informed decisions.
Family Characteristics ; Fetus ; Genetic Counseling ; Humans ; Mosaicism ; Parents ; Pregnancy ; Prenatal Diagnosis ; Reproductive Techniques ; Sex Chromosome Aberrations ; Sex Chromosomes ; Specialization

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