• Journal of Genetic Medicine
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• 제9권1호
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• pp.25-30
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• 2012

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.

• Asian Pacific Journal of Cancer Prevention
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• 제17권7호
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• pp.3615-3617
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• 2016

Background: Breast cancer molecular analysis by linkage analysis has the advantage of facilitating early diagnosis in asymptomatic genetic carriers, with a view to the preventive follow-up of these subjects and genetic counseling. The aim of this study was to evaluate BRCA1 gene D17S855 and D17S1322 markers in breast cancer patients. Materials and Methods: A series of 85 BC patients and 85 unrelated healthy women were recruited for haplotype analysis performed using two short tandem repeat markers located within the BRCA1 gene locus. Each marker was amplified with PCR genomic DNA from each individual and fluorescently end-labeled primers. Results: Both D17S855 and D17S1322 markers included 12 kinds of alleles. Results indicate that most of the BC patients shared two common 121-150 (11.2%, RR=1.56 and p=0.02) and 121-146 (5.6%, RR=1.9 and p=0.02) haplotypes. Conclusions: Our results should be helpful to understand the haplotype phase in the BRCA1 gene and establish a genetic screening strategy in the Iranian population.

• 한국발생생물학회지:발생과생식
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• 제25권2호
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• pp.113-121
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• 2021

This article aims to introduce German discussion on the approval of the non-invasive prenatal diagnosis (NIPD), which started with the development of PrenaTest^® by LifeCodexx AG. The discussion started with the concern that the non-invasive nature of NIPD, such as PrenaTest^®, may rapidly expand the use and scope of similar tests, thus leading to a new era of eugenics. Based on this concern, the need for clear clinical guidelines on specific indications for NIPD has been suggested. Along the same line, it was discussed whether PrenaTest^® is against the Basic Law prohibiting discrimination on grounds of disability and whether the test is outside the scope of the purpose of gene testing limited by Genetic Diagnosis Act. Through such discussion, the Federal Ministry of Health of Germany established the preconditions for inclusion of NIPD in the German public health insurance system. For this, the German motherhood guideline was amended and the information for the insured persons provided to pregnant women was included in the amended guideline. Such discussion made in Germany provides insight on which points should be considered when various gene testings are accepted in Korea, in which genetic communication has not been systematized yet. In particular, German counseling system for pregnant women will provide valuable insights for Korea where the direction for regulations on abortion has not been established even after the ruling by the Constitutional Court that charges for abortion are against the constitution.

• Journal of Genetic Medicine
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• 제17권2호
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• pp.102-107
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• 2020

We report the case of an infant with a 4q35.1 deletion with 10p duplication. This mutation is rarely reported in the literature and has been found to have variable clinical findings, often including developmental delay. In this case, the condition was detected by chromosomal microarray analysis after initial manifestation of a feeding problem and developmental delay. Minor dysmorphic features with abnormal neurological examination led to further evaluation. The father's chromosome complement was 46, XY, t(4;10)(q35;p12.2). Parental balanced translocation can go unrecognized, because affected individuals are often phenotypically healthy until they have fertility issues such as recurrent miscarriages or children with severe congenital disorders. Genetic diagnoses help to establish a clear family genetic background that permits the development of clear treatment strategies. Prenatal counseling can also help to understand the possible risks associated with pregnancy or future child planning.

• Journal of Genetic Medicine
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• 제18권2호
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• pp.117-120
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• 2021

We experienced a case of Xq deletion -- 46,X,del(X)(q22.3) -- detected by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis. Genetic counseling was a challenge because there are few reports of prenatal diagnosis of Xq deletion. In each female cell, one X chromosome is inactivated at random early in development, and there may be a preferential inactivation of the abnormal X chromosome. But some proportions of genes escape inactivation. The most common manifestation in women with Xq deletion is primary or secondary ovarian failure. Critical regions for ovarian function may be located at the long arm of the X chromosome. But, the onset and the severity of ovarian failure may vary with diverse, intricate factors. We anticipate that noninvasive prenatal screening can identify the broader range of chromosomal or genetic abnormalities with the advances in technology and analytic methods. We report our case with a brief review of the literature.

• Journal of Genetic Medicine
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• 제19권1호
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• pp.27-31
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• 2022

X-linked dominant hypophosphatemic rickets are the most common form of familial hypophosphatemic rickets resulting from hypophosphatemia caused by renal phosphate wasting, which in turn is a result of loss-of-function mutations in PHEX. Herein, we report a 39-year-old female with short stature and skeletal deformities and 12-month-old asymptomatic daughter. The female has a history of multiple surgical treatments because of lower limb deformities. Her biochemical findings revealed low serum phosphorus levels with elevated serum alkaline phosphatase activity and normal serum calcium levels, suggesting presence of hypophosphatemic rickets. To identify the molecular causes, we used a multigene testing panel and found a mutation, c.667dup (p.Asp223GlyfsTer15), in PHEX gene. To the best of our knowledge, this is a novel mutation. A heterozygous form of the same variant was detected in daughter, who showed no typical symptoms such as bow legs, frontal bossing, or waddling gate, but presented early signs of impaired mineralization in both X-ray and biochemical findings. The daughter was initiated onto early medical treatment with oral phosphate supplementation and an active vitamin D analog. Because the daughter was genetically diagnosed based on a family history before the onset of symptoms, appropriate medical management was possible from early infancy.

• Journal of Korean Biological Nursing Science
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• 제5권1호
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• pp.13-22
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• 2003

The purpose of this study was to investigate and analyze current educational requirements related to genetics curriculum(from June 2002 to September 2002) established at nursing institutions and to provide the basic data for the development of genetics science program at the undergraduate. Subjects of this study were comprised of twenty-three colleges of nursing in 4-year baccalaureate and thirty colleges in 3-year diploma programs. The results of this study were as follows : 1) 32 colleges offer courses related to genetics. 29 among 32 colleges have that integrated. Three schools have established completely independent courses of genetics. 21 colleges do not have any courses dealing with genetics. 2) The contents of courses related to genetics include: Congenital abnormalities, chromosomal aberrations, congenital metabolic disease, prenatal diagnosis and genetic counseling, genes and chromosomes, immune genetics, blood type and genetics, rule of genetics, variation in gene expression, the map of the human gene, gene linkage genetics, interaction of genes, single inheritance in order and genetic biochemistry. 3) For course credit, 14colleges(48.3%) offered at most 1 credit per course. The grade of student who can take the course, 51.7% were in their second year while 37.9% were in their third year. The majors of nursing faculty who taught the course were nursing(51.7%) and basic nursing science(17.2%). 4) As far as the need of opening the courses related to genetics, 36 colleges(67.0%) have made a 'need', 12 schools(22.6%) state 'dose not need'. 711e reason for need were the following development of bio engineering, increase number of patients who are related to genetics, recognition of the need in clinical nursing. 7 schools(13.2%) agreed to offer independent course in genetics but 39 schools(73.6%) are in disagreement with that. When the school offers the course with other courses, 27 schools(50.0%) are opening basic nursing science and 14 schools(26.4%) are opening nursing as an integrated courses. If the name of course was either genetic nursing(34.0%) or genetics(28.3%), the credits for the course was one or 2 credits. 33 schools(62.3%) students were in the first or second years. 41 schools(84.9%), the majors of the faculty who had taught the course were either basic nursing science(35.8%), nursing(28.3%) or basic medicine(24.5%). The contents of the course should include in that order: Chromosome aberrations, prenatal diagnosis and genetic counseling, congenital metabolic disease, congenital abnormalities, genes and chromosomes, the rules of genetics, immune genetics, interaction of genes, variation in gene expression, etc. The results and discussions of the study indicate that the entire curriculums need to be investigated with respect to contents of education, nursing curriculums and name of courses because of the increasing need of knowledge related to genetics in the clinical practice.

• 대한유전성대사질환학회지
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• 제4권1호
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• pp.5-12
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• 2004

Purpose Phenylketonuria is an inborn error of metabolism, which is inherited as an autosomal recessive trait. PKU is resulting from deficiency of phenylalanine hydroxylase. PAH gene spans about 90 kb on chromosome 12q and comprises 13 exons. In order to define the genetic basis of PKU and the frequencies and distribution of PAH mutations in the Korean population, we analyzed PAH gene in independent 80 patients with PKU. Methods All 13 exons including exon-intron boundaries and 2 kb of 5' upstream region of the PAH gene were analyzed by PCR-direct sequencing methods. Results PAH gene analysis revealed 39 different mutations including 10 novel mutations. The novel mutations consisted of 9 missense mutations (P69S, G103S, N207D, T278S, P281A, L293M, G332V, S391I and A447P) and a novel splice site variant (IVS10-3C>G). R243Q, IVS4-1G>A, and E6-96A>G were the most relevant mutations and they accounted in the whole for 38% of the mutant alleles identified in this study. We also observed that. $BH_4$ responsibility was. associated with genotype of R241C, R53H and R408Q. Conc1ustion Our present study with 80 participants extends the previous results to more comprehensive understanding of PAH allele distribution and frequency in Koreans. Although Korean mutation profile of PAH is similar to those of the nearest oriental populations (Japanese, Chinese, and Taiwanese), several different characteristic features are revealed. The characterization of the genotype-phenotype relationship was also performed. Our data would be very useful information for diagnosis, genetic counseling and planning of dietary and therapeutic strategies in Korean PAH patients.

• Journal of Genetic Medicine
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• 제7권1호
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• pp.24-36
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• 2010

대장암은 우리나라에서 가장 급격하게 발생이 증가하는 암종의 하나로 유전성 대장암은 전체 대장암의 5-15%를 차지한다. 유전성 대장암은 크게 유전성 비용종증 대장암과 유전성 용종 증후군에서 발생하는 대장암으로 나눌 수 있고, 유전성 용종 증후군에는 가족성 용종증, 포이츠-예거증후군, 유년기 용종증, MYH 연관 용종증 등이 이에 해당한다. 유전성 대장암은 원인 유전자의 배선돌연변이에 기인하므로 산발성 대장암에 비하여 암이 조기 발생하고, 동시성 및 이시성 암이 흔하며, 대장 이외의 장기에도 종양을 비롯한 질병을 일으키는 특징이 있다. 유전성 대장암은 환자뿐 아니라 가족구성원에 대한 유전자 검사, 유전 상담, 조기 진단을 위한 정기검진이 매우 중요하며, 이러한 환자 및 가족구성원의 효율적 관리를 위한 유전성종양 등록소의 역할이 중요하다. 본 논문에서는 유전성 대장암에 해당하는 질환들의 임상적/유전적 특성, 치료, 유전자 검사 및 정기검진 프로그램에 대하여 고찰하고자 한다.

• Journal of Genetic Medicine
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• 제8권2호
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• pp.130-134
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• 2011

Saethre-Chotzen 증후군은 상염색체 우성의 유전 방식을 보이는 두개골유합증후군(craniosynostosis)의 하나로, 원인 유전자는 TWIST1로 알려져 있다. Saethre-Chotzen 증후군의 임상 증상은 두개골유합증 중에서도 특히 관상봉합(coronal suture)이 편측 혹은 양측으로 조기에 폐쇄되는 것이 특징적이며, 이외에도 안검하수, 낮게 위치한 귀, 청력 소실, 손발가락의 기형 등 다양한 이상이 동반될 수 있다. 저자들은 양측성 관상봉합 두개골유합증과 특징적인 얼굴 모습, 다양한 동반 기형을 보인 두 명의 환자에서 TWIST1 유전자의 원인 돌연변이를 각각 확인하고 Saethre-Chotzen 증후군을 확진하였기에, 국내에서 처음으로 보고하는 바이다. 특히, TWIST1 유전자 분석은 관상봉합 유합증을 보이는 환자에서 질환을 확진하고, 및 환자와 가족에 대한 적절한 유전 상담을 제공하는데 유용한 검사로 생각된다.