• Archives of Plastic Surgery
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• 제35권5호
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• pp.565-568
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• 2008

Purpose: Bacterial degeneration of sweat and increased secretion of over developed apocrine sweat gland are known causes of osmidrosis. In addition, genetic inheritance must be another important cause, because there are high incidence rates of osmidrosis in familial members. But the research about genetic inheritance has been overlooked. For this reason we studied genetic inheritance in osmidrosis patients based on pedigree analysis. Methods: We have evaluated pedigree of 52 patients who have diagnosed and treated in our hospital from January 2003 to August 2007. For making pedigrees, we have evaluated 3 generations of affected lineage from osmidrosis patients. Family members having uncertain information or those who are before puberty are excluded. In pedigree analysis, inheritance rate and inheritance pattern from parents, prevalence rate in generations and sexual prevalence are evaluated. Results: In this study, we divided pedigrees into 3 different groups according to inheritance pattern. Group A is genetically unrelated pattern with no prevalence between familial members in 7 families. Group B is weakly expressed pattern with 17 families there are genetically related but no genetic patterns are founded. In group B inheritance rate is 34% and incidence rate is 21% in 2nd generation and 22% in 3rd generation. Group C is autosomal dominant pattern with 31 families. In group C, there are no differences in sexual prevalence. Incidence rate is 43% in 2nd generation and 49% in 3rd generation. Conclusion: In this study, we have studied pedigrees of 52 families of osmidrosis patients. 60% of the pedigrees shows autosomal dominant pattern, 33% shows genetically related but no definite autosomal dominant pattern and 7% shows genetically unrelated pattern. In Conclusion, This study can be basic data for future gene analysis study of osmidrosis.

• Clinical and Experimental Reproductive Medicine
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• 제26권3호
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• pp.491-495
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• 1999

Objective: To report the pedigree of Kallmann syndrome inherited in autosomal dominant mode with variable expressivity. Material and Method: Case report. Results: The patient had amenorrhea and anosmia but did not have a sign of absolute hypo gonadotropic hypogonadism. Her father had an anosmia and her two elderly sisters also had an anosmia but delivered babies uneventfully. Her two male siblings did not show any signs of hypogonadotropic hypogonadism. Conclusion: Kallmann syndrome has many different modes of inheritance such as autosomal dominant, autosomal recessive, and X-linked form. So the careful investigation of family pedigree is required.

• Annals of Pediatric Endocrinology and Metabolism
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• 제23권4호
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• pp.169-175
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• 2018

Thyroid dyshormonogenesis is characterized by impairment in one of the several stages of thyroid hormone synthesis and accounts for 10%-15% of congenital hypothyroidism (CH). Seven genes are known to be associated with thyroid dyshormonogenesis: SLC5A5 (NIS), SCL26A4 (PDS), TG, TPO, DUOX2, DUOXA2, and IYD (DHEAL1). Depending on the underlying mechanism, CH can be permanent or transient. Inheritance is usually autosomal recessive, but there are also cases of autosomal dominant inheritance. In this review, we describe the molecular basis, clinical presentation, and genetic diagnosis of CH due to thyroid dyshormonogenesis, with an emphasis on the benefits of targeted exome sequencing as an updated diagnostic approach.

• Journal of Genetic Medicine
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• 제10권2호
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• pp.81-87
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• 2013

Pseudohypoaldosteronism (PHA), a rare syndrome of systemic or renal mineralocorticoid resistance, is clinically characterized by hyperkalemia, metabolic acidosis, and elevated plasma aldosterone levels with either renal salt wasting or hypertension. PHA is a heterogeneous disorder both clinically and genetically and can be divided into three subgroups; PHA type 1 (PHA1), type 2 (PHA2) and type 3 (PHA3). PHA1 and PHA2 are genetic disorders, and PHA3 is a secondary disease of transient mineralocorticoid resistance mostly associated with urinary tract infections and obstructive uropathies. PHA1 includes two different forms with different severity of the disease and phenotype: a systemic type of disease with autosomal recessive inheritance (caused by mutations of the amiloride-sensitive epithelial sodium channel, ENaC) and a renal form with autosomal dominant inheritance (caused by mutations of the mineralocorticoid receptor, MR). In the kidneys, the distal nephron takes charge of the fine regulation of water absorption and ion handling under the control of aldosterone. Two major intracellular actors necessary for the action of aldosterone are the MR and the ENaC. Impairment of the intracellular aldosterone signal transduction pathway results in resistance to the action of mineralocorticoids, which leads to PHA. Herein, ion handling the distal nephron and the clinico-genetic findings of PHA are reviewed with special emphasis on PHA type 1.

• Childhood Kidney Diseases
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• 제24권1호
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• pp.58-61
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• 2020

Pseudohypoaldosteronism type 1 (PHA1) is a rare salt-wasting disorder caused by resistance to mineralocorticoid action. PHA1 is of two types with different levels of disease severity and phenotype as follows: systemic type with an autosomal recessive inheritance (caused by mutations of the epithelial sodium channel) and renal type with an autosomal dominant inheritance (caused by mutations in the mineralocorticoid receptor). The clinical manifestations of PHA1 vary widely; however, PHA1 commonly involves hyponatremia, hyperkalemia, metabolic acidosis and elevated levels of renin and aldosterone. The earliest signs of both type of PAH1 also comprise insufficiency weight gain due to chronic dehydration and failure to thrive during infancy. Here, we report a case of renal PAH1 in a 28-day-old male infant harboring a novel heterozygous mutation in NR3C2 gene (c.1341_1345dupAAACC in exon 2), showing only failure to thrive without the characteristic of dehydration.

• Clinical and Experimental Pediatrics
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• 제50권10호
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• pp.1018-1023
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• 2007

유전성 출혈성 모세혈관 확장증은 피부 점막 모세혈관확장증, 동정맥기형, 가족력을 3대 증상으로 하는 상염색체 우성 유전성 질환이다. 빈번한 코피가 가장 흔한 증상이며 폐, 뇌, 간 등에 동정맥기형이 동반될 수 있다. 저자들은 빈번한 코피, 폐와 뇌동정맥기형, 가족력을 가진 유전성 출혈성 모세혈관확장증 1례를 경험하고 이를 보고하는 바이다.

• Journal of Korean Neurosurgical Society
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• 제30권sup2호
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• pp.352-355
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• 2001

The authors report two cases of familial hemifacial spasm according to the clinical and three dimensional shortrange magnetic resonance angiography(3D-SRMRA) findings. In the family of the first case, there were five patient's with acquired hemifacial spasm in successive generations. Three male and two female patients in successive generations of the same family developed acquired hemifacial spasm. Four patients were on the left side and one was on the right side. In the family of the second case, there were three patient's with acquired hemifacial spasm in successive generations. Two brothers developed left-sided hemifacial spasm. 3D-SRMRA finding of the probands demonstrated that both anterior inferior cerebellar artery in first case and anterior inferior cerebellar artery & vertebral artery in second case offend the 7th cranial nerve respectively. The presence of familial clustering of these rare disorders suggest an underlying genetic predisposition. All family pedigrees suggest that a pattern of autosomal-dominant inheritance with partial penetrance.

• Journal of Yeungnam Medical Science
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• 제38권2호
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• pp.160-164
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• 2021

Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders, characterized by hypopigmentation of the eyes, skin, and hair, which result in ocular abnormalities and a risk of developing skin cancer. Currently, there is no ophthalmologic procedure or drug that prevents the clinical features of OCA. Here, we report a new type of OCA in two, unrelated Korean families with the same OCA2 mutation. Affected individuals in this study are different from those of previous reports in two aspects: an inheritance pattern and clinical presentation. All reported patients with OCA have shown an autosomal recessive inheritance pattern, while our patients showed an autosomal dominant inheritance pattern. Small amounts of pigment can be acquired with age in OCA, but there is no substantial variation from adolescence to adulthood in this regard. A case where the patient attained normal pigmentation levels has never been reported. However, our patients displayed completely normal pigmentation in their late twenties. Whole exome sequencing and in-silico analysis revealed a novel mutation, OCA2 c.2338G>A p.(G780S) (NM_000275) with a high likelihood of pathogenicity. Sanger sequencing of p.G780S identified the same mutation in the affected individuals, which was not found in the family members with normal phenotype. We hypothesize that OCA2 G780S not only acts as a pathogenic variant of OCA but also induces pigmentation by enhancing the melanogenesis gene expression of other modifier genes, such as SLC45A2 and TPC2. These findings may provide further understanding of melanin biosynthesis and new treatment methods for OCA.

• 생명과학회지
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• 제19권6호
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• pp.793-798
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• 2009

본 연구는 제주마에서 빈번하게 관찰되는 전신성 백모색 발생의 유전 양상과 유전적 변이와의 상관을 구명하기 위해 수행하였다. 백모색은 표현형과 MC1R 유전자형 분석 자료의 조합을 근거로 결정한 가라, 유마, 적다 등 모든 기본 모색에서 관찰되었다. 제주마에서는 타 품종들에서 KIT 유전자의 이형 접합성에 의해 발생하는 선천성 백색에 대한 잠재적 돌연변이 들은 발견되지 않았다. STX17 유전자의 intron 6 에서 4.6-kb 중복을 보유한 개체들에서 특이적으로 탈색된 백모색이 관찰되었다. 관찰기록과 STX17 유전자형에 따라 제주마에서 관찰되는 탈색된 백화현상은 총마(점진적 백화증, Gray) 로 확인되었다. 가계도 분석에서 총마 형질은 상동염색체성 우성유전형 질로 나타났으며 상동염색체성 열성형질인 albinism과도 구분되었다. 제주마에서 총마 모색이 자마 시기에는 명확하게 발현되는 않으며, 종종 다른 표현형들과 혼동을 일으키기도 하기 때문에, 총마와 이와 유사한 표현형으로 출생 시부터 혼합 모색을 나타내는 조모색, 상처 치료 후 백화, 백반 유사피부 백색증 등에 대한 추가 연구가 요구된다고 하겠다. 그럼에도 불구하고 총마와 유전적 배경의 관계를 구명한 본 연구결과는 제주마에서 분자육종을 위한 유용한 정보를 제공할 것으로 사료된다.

• Toxicological Research
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• 제21권2호
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• pp.135-140
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• 2005

Although the pathogenesis of cerebral cavernous malformation (CCM) is unknown, a familial predisposition has been recognized, with up to $55\%$ of patients having an affected relatives. Genetic linkage studies have recently mapped a gene causing CCM to a segment of the long arm of chromosome 7 (7q). We report herein a genetic linkage analysis conducted on a Korean three generation family with CCM. It's first report in Korean family. A Korean family in which one member had undergone surgery for ubtracerebrak hematoma (ICH) and confirmed the CCM, was evaluated. They were examined clinically (n=18) and by magnetic resonance (MR) imaging (n=10). Polymorphic markers (D7S1813, D7S1789) spanning the CCM1 locus on 7q were genotyped by the polymerase chain reaction and analysis of linkage was performed in this family (n=17). Six had multiple lesions on brain MR image, one of them being symptomatic, and five were asymptomatic. Seven remaining members were asymptomatic and refused MR image study. One had died of ICH from presumed CCM. Analysis of the pedigree was consistent with an autosomal dominant pattern of inheritance. All affected patients were linked to CCM1. Linkage to CCM1 can account for inheritance of CCM in this family. They had some striking features with a low clinical penetrance and the presence of multiple lesions. These findings have implications for genetic testing of this disorder and represent an important step toward identification of the gene responsible for the pathogenesis of this disease.