• 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.

• 한국양식학회지
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• 제10권4호
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• pp.395-402
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• 1997

The study has been conducted in order to understand the inheritance of body color in the wild type zebrafish (zebra danio), Danio rerio, and its golden mutant (golden danio). The body color was also studied to determine the effect of golden coloration on the survival rate of zebrafish eggs and larvae up to 15 days after fertilization. Reciprocal monohybrid crosses between the wild and the golden type of zebrafish indicated that golden coloration was controlled by a single gene which had two alleles. Transmission of these alleles from parents to their progenies followed the principles of dominance and segregation based on Mendelian inheritance. Similar results from the reciprocal crosses implied that a locus for golden coloration was located on an autosomal chromosome. On the other hand, average survival rates from four different types of mating between, and within, zebra and golden danio suggested that golden coloration seemed to be associated with the survival rate of zebrafish, especially in its early embryonic stage. This indicated that homozygous recessive golden mutation was likely to weaken the golden danio's chance of survival.

• Journal of Interdisciplinary Genomics
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• 제4권1호
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• pp.11-14
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• 2022

Primary ciliary dyskinesia (PCD) is a genetic disorder that affects approximately 1 in 15,000-30,000 people, with the majority of patients inheriting the disorder via autosomal recessive inheritance. PCD is characterized by abnormal ciliary ultrastructure and/or function, which results in impaired mucociliary clearance and recurrent respiratory infections. Despite the presence of symptoms from birth, many patients with PCD remain undiagnosed until adulthood. Many advances in the diagnosis of PCD have occurred in recent years, including nasal nitric oxide assays, ciliary motility tests, and genetic sequencing. Early diagnosis and symptom management may reduce morbidity and mortality from PCD improving the patient's quality of life.

• 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.

• 한국동물번식학회:학술대회논문집
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• 한국동물번식학회 2001년도 춘계학술발표대회
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• pp.48-48
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• 2001

A new neurological mutant has been found in the ICR outbred strain mouse. Affected mice display profound deafness and a head-tossing and bidirectional circling behavior, showing an autosomal recessive mode of inheritance. It was, therefore, named cir/Kr with the gene symbol cir. The auditory tests identified clearly the hearing loss of the cir mice when compared to wild type mice. Pathological studies confirmed the developmental defects in the middle ear, cochlea, cochlear nerve, and semicircular canal areas, which were correlated to the abnormal behavior observed in the cir mice. Thus, cir mice may be useful as a model for studying inner ear abnormalities and deafness. We have constructed a genetic linkage map by positioning 14 microsatellite markers across the (cir) region and intraspecific backcross between cir and C57BL/6J mice. The cir mouse harbors an autosomal recessive mutation on mouse chromosome 9. The cir gene was mapped to a region between D9Mit116 and D9Mit38 Estimated distances between cir and D9Mit116, and between cir and D9Mit38 are 0.7 and 0.2 cM, respectively. The gene in order was defines : centromere-D9Mit182-D9Mit51/D9Mit79/D9Mit310-D9Mit212/D9Mit184-D9Mit116-cir-D9Mit38-D9Mit20-D9Mit243-D9Mit16-D9Mit55/D9Mit125-D9Mit281. The mouse map location of the cir locus appears to be in a region homologous to human 3q21. Our present date suggest that the nearest flanking marker D9Mit38 provides a useful anchor for the isolation of the cir gene in a yeast artificial chromosome contig.

• 한국응용곤충학회지
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• 제30권2호
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• pp.106-110
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• 1991

배추좀나방(Plutella xylostella L.)의 Fenvalerate에 대한 저항성 유전양식을 살충제 감수성과 해독댓활성 시험으로 조사하였다. 실내감수성계통(S)과 Fenvalerate도태저항성계통(R)의 정역교배에서 얻어진 양$F_{1}$ ({TEX}$S_{♀}${/TEX}$\times$$(S_{female}\timesR_{male},\;R_{female}\timesS_{male})$은 약량과 사망률 관계에서 감수성 차이가 없었다. 양$F_{1}$ ({TEX}$S_{♀}${/TEX}$\times$$(S_{female}\timesR_{male},\;R_{female}\timesS_{male})$의 우성도는 살충제 감수성에서 각각 -0.50, -0.46, 해독대사활성시험에서 각각 -0.85, -0.81로 나타났다. 따라서 fenvalerate저항성 유전자는 상염색체상에 존재하며 불완전열성에 의해 지배되는 것으로 나타났다.

• 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.

• 대한소아치과학회지
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• 제25권2호
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• pp.450-457
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• 1998

The $Papillon-Lef\`{e}vre$ Syndrome(PLS), a disease with autosomal recessive inheritance, is characterized by diffuse hyperkeratosis of the palms and soles, mostly prepubertal periodontitis and premature loss of primary and permanent dentition. The etiology of the destruction of periodontal tissues has not been completely clarified. In recent years, two main factors are suggested to be responsible for tooth loss ; firstly, the presence of gram negative microorganisms in the periodontal pockets of the patients. The other factor suggested is cellular deficiency in chemotaxic and phagocytic function of neutrophylic granulocytes. Resent data suggestes that mechanical debridement in conjunction with antibiotic therapy may be successful in periodontal management of $Papillon-Lef\`{e}vre$ Syndrome, particularly if administered early. In this study, a $Papillon-Lef\`{e}vre$ Syndrome patient was studied clinically, radiologically, histopathologically and microbiologically. 5 years female patient with gingival swelling and destruction of periodontal structure on the whole dentition were examined and palmar and plantar hyperkeratosis were can be seen. On microbiological analysis, Actinobacillus actino-mycetemcomitans was performed. Concurrently, the children recieved extraction of maxillary anterior teeth and construction of removable prosthetis. The combination of professional oral hygiene care and antibiotic therapy improved the dermatologic and periodontal condition.

• 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.