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  • 발행기관: 대한의학유전학회
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대한의학유전학회지(Journal of Genetic Medicine)

  • 발행기관 : 대한의학유전학회(The Korean Society of Medical Genetics)
  • 출처구분 : 학회
  • 간행물유형 : 학술저널
  • 발행주기 : 연 2회간 (발행월:6,12)
  • Print ISSN : 1226-1769
  • Online ISSN : 2383-8442
  • 등재정보 : KCI 등재
대한의학유전학회지
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Cumulus and granulosa cell biomarkers: a good predictor for successful oocyte and embryo developmental competence in human in vitro fertilization
Cumulus and granulosa cell biomarkers: a good predictor for successful oocyte and embryo developmental competence in human in vitro fertilization
Eun Jeong Yu;Sang Woo Lyu
대한의학유전학회 / 대한의학유전학회지 제18권 제1호 / 2021 / 1-7 (7 pages)
의약학>기타의약학 / KDC : 기술과학 > 의학 / KCI : 의약학 > 약리학
초록보기
The oocyte quality is of great importance in infertility as it reflects the follicle developmental potential and further affects the embryo development, clinical pregnancy outcomes. The analysis of gene expression in somatic cells is an important study to better clinical in vitro fertilization (IVF) outcomes in embryo selection reflecting the appropriate communication between the oocyte and somatic cells. Specifically, somatic cell transcriptomic technology can help assess biomarkers of oocyte and embryo ability. The present article aims to overview the basic aspect of folliculogenesis and review studies involving changes in candidate gene expression of cumulus or granulosa cell related to clinical outcomes in human IVF.
Treatment strategies targeting specific genetic etiologies in epilepsy
Treatment strategies targeting specific genetic etiologies in epilepsy
Hyo Jeong Kim;Hoon-Chul Kang
대한의학유전학회 / 대한의학유전학회지 제18권 제1호 / 2021 / 8-15 (8 pages)
의약학>기타의약학 / KDC : 기술과학 > 의학 / KCI : 의약학 > 약리학
초록보기
Recent genetic advances allow for identification of the genetic etiologies of epilepsy within individual patients earlier and more frequently than ever. Specific targeted treatments have emerged from improvements in understanding of the underlying epileptogenic pathophysiology. These targeted treatment strategies include modifications of ion channels or other cellular receptors and their function, mechanistic target of rapamycin signaling pathways, and substitutive therapies in hereditary metabolic epilepsies. In this review, we explore targeted treatments based on underlying pathophysiologic mechanisms in specific genetic epilepsies.
GLB1-related disorders: GM1 gangliosidosis and Morquio B disease
GLB1-related disorders: GM1 gangliosidosis and Morquio B disease
Sung Yoon Cho;Dong-Kyu Jin
대한의학유전학회 / 대한의학유전학회지 제18권 제1호 / 2021 / 16-23 (8 pages)
의약학>기타의약학 / KDC : 기술과학 > 의학 / KCI : 의약학 > 약리학
초록보기
GLB1-related disorders comprise two phenotypically unique disorders: GM1 gangliosidosis and Morquio B disease. These autosomal recessive disorders are caused by b-galactosidase deficiency. A hallmark of GM1 gangliosidosis is central nervous system degeneration where ganglioside synthesis is highest. The accumulation of keratan sulfate is the suspected cause of the bone findings in Morquio B disease. GM1 gangliosidosis is clinically characterized by a neurodegenerative disorder associated with dysostosis multiplex, while Morquio B disease is characterized by severe skeletal manifestations and the preservation of intelligence. Morquio B disease and GM1 gangliosidosis may be on a continuum of skeletal involvement. There is currently no effective treatment for GLB1-related disorders. Recently, multiple interventions have been developed and there are several ongoing clinical trials.
Molecular characterization in chromosome 11p15.5 related imprinting disorders Beckwith–Wiedemann and Silver–Russell syndromes
Molecular characterization in chromosome 11p15.5 related imprinting disorders Beckwith–Wiedemann and Silver–Russell syndromes
Young-Lim Shin
대한의학유전학회 / 대한의학유전학회지 제18권 제1호 / 2021 / 24-30 (7 pages)
의약학>기타의약학 / KDC : 기술과학 > 의학 / KCI : 의약학 > 약리학
초록보기
Epigenetics deals with modifications in gene expression, without altering the underlying DNA sequence. Genomic imprinting is a complex epigenetic phenomenon that refers to parent-of-origin-specific gene expression. Beckwith–Wiedemann syndrome (BWS) and Silver–Russell syndrome (SRS) are congenital imprinting disorders with mirror opposite alterations at the genomic loci in 11p15.5 and opposite phenotypes. BWS and SRS are important imprinting disorders with the increase of knowledge of genetic and epigenetic mechanisms. Altered expression of the imprinted genes in 11p15.5, especially IGF2 and CDKN1C , affects fetal and postnatal growth. A wide range of imprinting defects at multiple loci, instead of a restricted locus, has been shown in some patients with either BWS or SRS. The development of new high-throughput assays will make it possible to allow accurate diagnosis, personalized therapy, and informative genetic counseling.
Clinical utility of chromosomal microarray analysis to detect copy number variants: Experience in a single tertiary hospital
Clinical utility of chromosomal microarray analysis to detect copy number variants: Experience in a single tertiary hospital
Hee Sue Park;Aryun Kim;Kyeong Seob Shin;Bo Ra Son
대한의학유전학회 / 대한의학유전학회지 제18권 제1호 / 2021 / 31-37 (7 pages)
의약학>기타의약학 / KDC : 기술과학 > 의학 / KCI : 의약학 > 약리학
초록보기
Purpose: To summarize the results of chromosomal microarray analysis (CMA) for copy number variants (CNVs) detection and clinical utility in a single tertiary hospital. Materials and Methods: We performed CMA in 46 patients over the course of two years. Detected CNVs were classified into five categories according to the American College of Medical Genetics and Genomics guidelines and correlated with clinical manifestations. Results: A total of 31 CNVs were detected in 19 patients, with a median CNV number per patient of two CNVs. Among these, 16 CNVs were classified as pathogenic (n=3) or likely pathogenic (LP) (n=11) or variant of uncertain significance (n=4). The 16p11.2 deletion and 16p13.11 deletion classified as LP were most often detected in 6.5% (3/46), retrospectively. CMA diagnostic yield was 24.3% (9/37 patients) for symptomatic patients. The CNVs results of the commercial newborn screening test using next generation sequencing platforms showed high concordance with CMA results. Conclusion: CMA seems useful as a first-tier test for developmental delay with or without congenital anomalies. However, the classification and interpretation of CMA still remained a challenge. Further research is needed for evidence-based interpretation.
Psychological effects and risk perception after genetic counseling
Psychological effects and risk perception after genetic counseling
Sunghwan Shin;Mi Ra Ryu;Won Kyung Kwon;Suhee Kim;Ja-Hyun Jang;Jong-Won Kim
대한의학유전학회 / 대한의학유전학회지 제18권 제1호 / 2021 / 38-43 (6 pages)
의약학>기타의약학 / KDC : 기술과학 > 의학 / KCI : 의약학 > 약리학
초록보기
Purpose: Demand for genetic counseling on cancer predisposition syndrome is increasing. We evaluated the psychological effect on counselees after genetic counseling at a clinic in a single center. Materials and Methods: We surveyed a total of 72 enrolled participants who visited a genetic counseling clinic at the Samsung Medical Center (SMC). The initial survey was conducted before the first genetic counseling session, and the second survey was conducted after the second genetic counseling session. A total of 43 participants completed both the initial and second surveys. Results: The initial survey of 72 participants indicated higher feelings of guilt in the group with religion, higher depression and anxiety in the group with a diagnosis of self, and higher anxiety in the group on self-referral to the genetic counseling clinic. In the completed survey of 43 participants, overall decreased depression was observed after the second genetic counseling session (P=0.013). Risk perception and anxiety decreased in the group diagnosed with benign variant/variant of uncertain significance (BV/VUS, 25/3) and increased in the group diagnosed with pathogenic variant (PV, 15). Risk perception and anxiety differed between the BV/VUS and PV groups (P<0.001 and P=0.03, respectively). Conclusion: The genetic counseling clinic at the SMC was effective in ameliorating the depression score. Assessment of survey results revealed different depression scores, feelings of guilt and anxiety, and different effects of the genetic counseling clinic, depending on the subgroups. Understanding the needs and psychological characteristics of different groups is necessary for improving genetic counseling services.
Case report of cerebral creatine deficiency syndrome with novel mutation of SLC6A8 gene in a male child in Bangladesh
Case report of cerebral creatine deficiency syndrome with novel mutation of SLC6A8 gene in a male child in Bangladesh
Muhammad Mizanur Rahman;Kanij Fatema
대한의학유전학회 / 대한의학유전학회지 제18권 제1호 / 2021 / 44-47 (4 pages)
의약학>기타의약학 / KDC : 기술과학 > 의학 / KCI : 의약학 > 약리학
초록보기
Cerebral creatine deficiency syndrome (CCDS) is a disorder where a defect is present in transport of creatine in the brain. Creatine plays an essential role in the energy metabolism of the brain. This is a genetic disorder, autosomal recessive or X linked, characterized by intellectual disability, speech and language delay, epilepsy, hypotonia, etc. Until recently very few number of cases have been reported. Here we report a case of 1.5-year-old boy who had epilepsy (epileptic spasm and generalized tonic clonic seizure), intellectual disability, microcephaly, hypotonia and speech delay. His magnetic resonance imaging of brain showed cortical atrophy and electroencephalography showed burst suppression pattern. The diagnosis was confirmed by clinical exome sequencing which showed novel mutation of SLC6A8 + in exon 9, suggestive of X linked recessive CCDS. The patient was then treated with glycine, L-arginine and creatine monohydrate with multiple antiepileptic drugs.
The first Korean case of a newborn with 3p26 microdeletion and 5q35 microduplication inherited from paternal balanced translocation
The first Korean case of a newborn with 3p26 microdeletion and 5q35 microduplication inherited from paternal balanced translocation
Jin A Jang;Young Bae Sohn;Jang Hoon Lee;Moon Sung Park
대한의학유전학회 / 대한의학유전학회지 제18권 제1호 / 2021 / 48-54 (7 pages)
의약학>기타의약학 / KDC : 기술과학 > 의학 / KCI : 의약학 > 약리학
초록보기
Genetic imbalances are a major cause of congenital and developmental abnormalities. We report the first case of a 3p26 microdeletion and 5q35.2q35.3 microduplication in a newborn with multiple congenital anomalies evaluated using chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH). The patient was born at 30 weeks and 2 days of gestation with a body weight of 890 g. He had symmetric intrauterine growth restriction, microcephaly, facial dysmorphism (hypertelorism, blepharophimosis, mild low-set ears, high-arched palate, and micrognathia), and right thumb polydactyly. Echocardiography revealed an atrial septal defect and patent ductus arteriosus. Furthermore, CMA revealed a concurrent microdeletion in 3p26 and a microduplication in 5q35.2q35.3. FISH analysis showed that these genetic changes resulted from a translocation mutation between chromosomes 3 and 5. The patient’s mother had mild intellectual disability, short stature, and facial dysmorphism, while his father had a normal phenotype. However, parental FISH analysis revealed that the asymptomatic father carried a balanced translocation of chromosomes 3p26 and 5q35. CMA and FISH tests are useful for diagnosing neonates with multiple congenital abnormalities. Further parental genetic investigation and proper genetic counseling are necessary in cases of chromosomal abnormalities inherited from parental balanced translocations.
West syndrome with hyperkinesia and cortical visual impairment: A case report of GRIN1 encephalopathy
West syndrome with hyperkinesia and cortical visual impairment: A case report of GRIN1 encephalopathy
Seul A Choi;Young Ok Kim
대한의학유전학회 / 대한의학유전학회지 제18권 제1호 / 2021 / 55-59 (5 pages)
의약학>기타의약학 / KDC : 기술과학 > 의학 / KCI : 의약학 > 약리학
초록보기
West syndrome (WS) presenting with infantile spasms, developmental delay, and hypsarrhythmia has genetic etiology in some patients. Movement disorders or visual impairment that share genetic underpinnings with infantile spasms can provide diagnostic clues for specific genetic mutations. Mutations of the GRIN1 gene encoding the glutamate receptor inotropic Nmethyl- D-aspartate subunit can result in WS with hyperkinetic movements, cortical visual impairment, autistic features, and bilateral polymicrogyria. An 11-month-old boy with WS showed hyperkinetic movements and visual impairment. Brain magnetic resonance imaging and metabolic investigations revealed no abnormalities. Whole-exome sequencing revealed a novel likely pathogenic variant (c.1561_1563del; p.Asn521del) of GRIN1 (NM_007327.3). The proband was treated with vigabatrin and became seizure-free within one week. Notably, the cortical blindness improved within 3 months and the hyperkinetic movements resolved one year after the proband became seizure-free. To the best of our knowledge, this is the first report of GRIN1 encephalopathy in Koreans.
Identification of a likely pathogenic variant of YY1 in a patient with developmental delay
Identification of a likely pathogenic variant of YY1 in a patient with developmental delay
Soyoung Bae;Aram Yang;Ja-Hye Ahn;Jinsup Kim;Hyun Kyung Park
대한의학유전학회 / 대한의학유전학회지 제18권 제1호 / 2021 / 60-63 (4 pages)
의약학>기타의약학 / KDC : 기술과학 > 의학 / KCI : 의약학 > 약리학
초록보기
Gabriel–de Vries syndrome, caused by the mutation of YY1, is a newly defined genetic syndrome characterized by developmental delay, facial dysmorphism, and intrauterine growth retardation. A 7-month-old girl presented developmental delay and subtle facial dysmorphism including facial asymmetry, micrognathia, and low-set ears. Whole exome sequencing identified a de novo heterozygous missense variant in the YY1 (c.1220A>G; p.His407Arg) gene. Here, we examined the clinical and genetic characteristics of an infant with a novel likely pathogenic variant of YY1. This case expands the phenotypic spectrum of Gabriel–de Vries syndrome.
A case of TBC1D32-related ciliopathy with novel compound heterozygous variants
A case of TBC1D32-related ciliopathy with novel compound heterozygous variants
Ji Ye Ahn;Soo Yeon Kim;Byung Chan Lim;Ki Joong Kim;Jong Hee Chae
대한의학유전학회 / 대한의학유전학회지 제18권 제1호 / 2021 / 64-69 (6 pages)
의약학>기타의약학 / KDC : 기술과학 > 의학 / KCI : 의약학 > 약리학
초록보기
Primary cilium has a signal transduction function that is essential for brain development, and also determines cell polarity and acts as a mediator for important signaling systems, especially the Sonic Hedgehog (SHH) pathway. TBC1D32 is a ciliary protein, implicated in SHH signaling. Biallelic mutations in the TBC1D32 gene causes a kind of ciliopathy, heterogeneous developmental or degenerative disorders that affect multiple organs, including the brain. Here we report a boy who carried compound heterozygous variants in TBC1D32. The patient showed hypotonia, respiratory difficulty, and multiple anomalies at his birth. He was diagnosed with congenital hypopituitarism and treated with T4, hydrocortisone, and growth hormone. Despite the hormonal replacement, the patient needed long-term respiratory support with tracheostomy and nutritional support with a feeding tube. His developmental milestones were severely retarded. Hydrocephalus and strabismus developed and both required surgery, during the outpatient follow-up. Whole-exome sequencing indicated compound heterozygous variants, c.2200C>T (p.Arg734*) and c.156-1G>T, in TBC1D32 gene. This is the first Korean case of TBC1D32-related ciliopathy and we reported detailed and sequential clinical features. This case demonstrated the utility of whole-exome sequencing and provided valuable clinical data on ultra-rare disease.
Cohen–Gibson syndrome in a family: The first familial case report
Cohen–Gibson syndrome in a family: The first familial case report
Yeo Jin Kang;Young Ok Kim
대한의학유전학회 / 대한의학유전학회지 제18권 제1호 / 2021 / 70-74 (5 pages)
의약학>기타의약학 / KDC : 기술과학 > 의학 / KCI : 의약학 > 약리학
초록보기
Cohen–Gibson syndrome (CGS) was first reported by Cohen et al., who identified the mutation of the gene encoding the embryonic ectoderm development (EED) in a patient with phenotypes similar to Weaver syndrome. CGS manifests as an overgrowth and intellectual disability, in addition to the characteristic facial features and organ anomalies. CGS has been reported in only 11 unrelated patients since 2015. A girl aged 6 years and 3 months presented with seizures. She had macrosomia, a dysmorphic face, and intellectual disability. Her mother and younger sister and brother also had macrosomia, intellectual disability, and similar facial features; additionally, her mother experienced seizures and had an arachnoid cyst, while her siblings had valvar pulmonary stenosis. Whole-exome sequencing for the proband revealed a mutation of EED (c.581A>G, p.Asn194Ser), which was also verified in the mother and both siblings using Sanger sequencing. This is the first report of familial CGS.