• Journal of Genetic Medicine
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• 제6권1호
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• pp.62-66
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• 2009

목 적: 자연 유산의 가장 흔한 원인은 수태산물의 염색체 이상으로 알려져 왔다. 따라서 환자들의 상담 및 치료에 유용한 정보를 얻기 위해 염색체 이상의 빈도와 유형을 조사하였다. 대상 및 방법: 2006년1월부터2007년 12월까지 수탁된 75례의 자연유산 수태산물에서 세포유전학적 분석을 수행하였다. 결 과: 수태산물의 염색체 이상 빈도는 32.0% (24/75례)였다. 염색체 이상들 중 삼염색체는 62.5% (15/24례)였고, 대부분의 삼염색체로는 21번 염색체의 삼염색체가 26.6% (4/15례), 다음으로 흔한 이상으로는 22번 삼염색체가 3례, 20번 삼염색체가 2례였다. 비정상 핵형의 모성 나이의 평균은 $34.3{\pm}3.3$세였다. 결 론: 유산 수태산물의 세포유전학적 분석은 자연 유산 환자들을 위한 진단과 유전상담에 중요하다고 할 수 있다.

• Journal of Yeungnam Medical Science
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• 제29권2호
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• pp.150-152
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• 2012

Acute renal failure with severe loin pain and patch renal ischemia after anaerobic exercise (ALPE) is a rare cause of exercise-induced acute kidney injury. Some ALPE patients also have renal hypouricemia. Mutations in the SCL22A12 gene are among the major factors of hypouricemia. Education for the prevention of relapse and genetic counseling should be recommended to ALPE patients with renal hypouricemia. This paper reports a 25-year-old man who showed recurrent exercise-induced ARF and renal hypouricemia with R90H mutation in his SCL22A12 gene.

• Journal of Genetic Medicine
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• 제15권1호
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• pp.13-16
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• 2018

X-linked juvenile retinoschisis (XLRS) is characterized by the progressive loss of visual acuity and vitreous hemorrhage. XLRS is caused by a mutation of retinoschisin 1 (RS1) gene at Xp22.13. In the current report, a 2-year-old Korean patient with XLRS was described. The germline deletion of exon 1 was identified in the RS1 gene. Considering X-linked inheritance pattern, validation of a carrier state of a patient's mother is important for the genetic counseling of other family members and for the future reproductive plan. To confirm the carrier state of his mother, the multiplex ligation-dependent probe amplification analysis was done using peripheral leukocytes and found the heterozygous deletion of exon 1 in his mother.

• Journal of Genetic Medicine
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• 제13권2호
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• pp.95-98
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• 2016

We report the prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus. Cytogenetic analysis of parental chromosomes revealed that the mother had a normal 46,XX karyotype, whereas the father exhibited a 46,XY,der(15)t(Y;15) karyotype. We performed cytogenetic analysis of the father's family as a result of the father and confirmed the same karyotype in his mother and brother. Fluorescence in situ hybridization and quantitative fluorescent-polymerase chain reaction analysis identified the breakpoint and demonstrated the absence of the SRY gene in female members. Thus, the proband inherited this translocation from the father and grandmother. This makes the prediction of the fetal phenotype possible through assessing the grandmother. Therefore, we suggest that conventional cytogenetic and molecular cytogenetic methods, in combination with family history, provide informative results for prenatal diagnosis and prenatal genetic counseling.

• Journal of Audiology & Otology
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• 제23권4호
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• pp.175-180
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• 2019

Diagnosis of pre-lingual hearing loss (HL) is difficult owing to the high number of genes responsible. The most frequent cause of HL is DFNB1 due to mutations in the GJB2 gene. It represents up to 40% of HL cases in some populations. In Iran, it has previously been shown that DFNB1 accounts for 16-18% of cases but varies among different ethnic groups. Here, we reviewed results from our three previous publications and data from other published mutation reports to provide a comprehensive collection of data for GJB2 mutations and HL in northern Iran. In total, 903 unrelated families from six different provinces, viz., Gilan, Mazandaran, Golestan, Ghazvin, Semnan, and Tehran, were included and analyzed for the type and prevalence of GJB2 mutations. A total of 23 different genetic variants were detected from which 18 GJB2 mutations were identified. GJB2 mutations were 20.7% in the studied northern provinces, which was significantly higher than that reported in southern populations of Iran. Moreover, a gradient in the frequency of GJB2 mutations from north to south Iran was observed. c.35delG was the most common mutation, accounting for 58.4% of the cases studied. This study suggests that c.35delG mutation in GJB2 is the most important cause of HL in northern Iran.

• 대한청각학회지
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• 제23권4호
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• pp.175-180
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• 2019

Diagnosis of pre-lingual hearing loss (HL) is difficult owing to the high number of genes responsible. The most frequent cause of HL is DFNB1 due to mutations in the GJB2 gene. It represents up to 40% of HL cases in some populations. In Iran, it has previously been shown that DFNB1 accounts for 16-18% of cases but varies among different ethnic groups. Here, we reviewed results from our three previous publications and data from other published mutation reports to provide a comprehensive collection of data for GJB2 mutations and HL in northern Iran. In total, 903 unrelated families from six different provinces, viz., Gilan, Mazandaran, Golestan, Ghazvin, Semnan, and Tehran, were included and analyzed for the type and prevalence of GJB2 mutations. A total of 23 different genetic variants were detected from which 18 GJB2 mutations were identified. GJB2 mutations were 20.7% in the studied northern provinces, which was significantly higher than that reported in southern populations of Iran. Moreover, a gradient in the frequency of GJB2 mutations from north to south Iran was observed. c.35delG was the most common mutation, accounting for 58.4% of the cases studied. This study suggests that c.35delG mutation in GJB2 is the most important cause of HL in northern Iran.

• 대한유전성대사질환학회지
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• 제20권1호
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• pp.24-28
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• 2020

당원병 III형은 GDE 결핍으로 분해되지 않은 당원이 간 또는 근육에 축적되는 유전대사이상질환이다. AGL 유전자 변이에 의해 발생하고 높은 유전적 이질성을 가지고 있다. 당원병 III형의 임상증상은 간 비대, 성장 지연, 저혈당 등이 있다. 이러한 임상 증상은 다른 타입의 당원병의 증상과 비슷하여 임상적으로는 구분하기가 어렵다. 저자들은 간 비대 주소로 내원한 11개월 환아에서 유전자 패널 검사로 진단된 당원병 III형 증례를 보고하고자 한다. 간 조직검사결과 간세포에 글리코겐이 축적되어 있어 당원병을 의심하였으며, 당원병 아형의 감별 진단을 위해 유전자 패널 검사를 시행하였다. 그 결과, AGL 유전자에서 이전에 보고된 바 없는 c.311_312del와 c.3314+1G>A 변이가 이형접합체로 발견되어 당원병 III형으로 진단하였다. 진단 후 생옥수수 전분가루를 복용하는 식이요법 시작하였고, 생후 35개월인 현재까지 급·만성 합병증 없는 상태이다. 또한, 가족 검사를 통해 부모가 각각 보인자임을 확인하였고, 임신된 동생의 융모막 검사에서도 동일한 변이가 확인되어 출산 후 재검 및 조기 식이요법을 시행할 예정이다. 유전자 패널 검사법은 당원병과 같이 임상적으로 구분이 어려우며 높은 유전적 이질성을 가진 질환의 감별 진단 시 시간과 비용을 아낄 수 있어 유용하다. 또한 정확한 분자 유전학적 진단은 환아와 가족에게 질환에 대한 정확한 정보 및 치료 예방, 산전 유전상담을 제공하는 데 도움이 된다.

• Journal of Genetic Medicine
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• 제6권1호
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• pp.81-86
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• 2009

다발성 골단이형성증은 임상적 및 유전학적으로 이질적인 연골이형성증으로, 골화 중심의 발달 지연, 골단만을 침범하는 사지의 변형 및 경한 저신장을 보이는 질환이다. 원인으로는 COMP 유전자의 돌연변이가 가장 흔히 발견되고 있으며, 돌연변이의 대부분은 칼모듈린 유사 반복(calmodulin-like repeats)부분과 C-말단에 위치한다. 저자들은 4대에 걸쳐 12명의 가족구성원에서 다발성 골단이형성증을 보인 한 가계에서 COMP 유전자 분석으로 새로운 돌연변이를 발견하여 보고하는 바이다. 이 가계는 젊은 나이에 퇴행성 관절염이 발생하고, 추후 관절치환술이 요구되는 상염색체 우성 유전 방식을 보이는 질환을 가지고 있었다. 방사선학적 검사상 양측 무릎 관절의 내측 대퇴돌기에 골연골 결손을 보였으며, 양측 무릎과 엉덩이 관절은 다양한 정도의 퇴행성 변화가 관찰되었다. 계보발단자 및 5명의 다른 이환된 가족들에서 시행한 COMP 유전자 분석에서, 12번째 엑손에서 현재까지 보고되지 않은 새로운 돌연변이인 c.1280G>C (p.Gly427Ala)을 확인하였다. 이 돌연변이는 다른 3명의 이환되지 않은 가족들에서는 발견되지 않았다. 상염색체 우성 방식을 보이는 다발성 골단이형성증 환자들에서 COMP 유전자의 직접 염기서열 분석법은 질병의 원인이 되는 돌연변이를 찾는데 도움이 되며, 고위험 가족들에서 보인자를 찾아낼 수 있고, 질병의 합병증이 발생하기 이전에 조기 진단 및 중재를 가능케 하는 유전 상담의 기회를 제공해 줄 수 있다.

• Clinical and Experimental Pediatrics
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• 제57권3호
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• pp.140-148
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• 2014

Purpose: Lowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global developmental delay. This study evaluated the clinical and genetic characteristics of Korean patients with Lowe syndrome. Methods: The clinical findings and results of genetic studies were reviewed for 12 male patients diagnosed with Lowe syndrome at a single medical institution. Results: The mean age of the patients at presentation was 2.2 months (range, 0-4 months), although the diagnosis was delayed by a mean of 2.8 years (range, 0-9.7 years). The mean follow-up period was 9.0 years (range, 0.6-16.7 years). Nine mutations in OCRL were identified in 11 patients (92%), with three novel mutations. The main presentation was congenital cataract in both eyes necessitating early cataract removal in the 11 patients with impaired visual acuity. Profound short stature and developmental delay were observed in all patients, and seizures occurred in 50% of the patients. All patients suffered from proximal renal tubular dysfunction, and one patient developed chronic renal failure. Other manifestations included pathologic fracture (50%), cutaneous cysts (42%), and cryptorchidism (42%). However, there was no bleeding tendency, and none of the patients died during the study period. Conclusion: This study describes the clinical and genetic characteristics of Korean patients with Lowe syndrome. The observations are helpful for understanding the natural courses of Lowe syndrome and for appropriate genetic counseling.

• Asian Pacific Journal of Cancer Prevention
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• 제13권9호
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• pp.4477-4479
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• 2012

Background: The high incidence and relatively good prognosis of breast cancer has made it the most prevalent cancer in the world today. A large number of distinct mutations and polymorphisms in the p53 gene have been reported worldwide, but there is no report regarding the role of this inherited susceptibility gene in breast cancer risk among the Bengalee Hindu Caste females of West Bengal, India. Aim of the Study: We investigated the distribution and the nature of p53 gene mutations and polymorphisms in exons 5-7 in a cohort of 110 Bengalee Hindu breast cancer patients and 127 age, sex and caste matched controls by direct sequencing. Results: We did not observe any mutations and polymorphisms in our studied individuals. Conclusion: We therefore conclude that mutations in exons 5-7 of p53 gene are rare causes of breast cancer among Bengalee Hindu caste females, and therefore of little help for genetic counseling and diagnostic purposes.