• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.3 no.1
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• pp.110-115
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• 2000

ARC (arthrogryposis multiplex congenita, renal dysfunction and cholestasis) syndrome was first described by Lutz-Richner and Landolt in 1973 and after then similar cases were scarcely reported worldwide. There's no reported case in Korea. It was first suggested that ARC syndrome was inherited by X-linked recessive trait but now it was thought to be inherited by autosomal recessive trait also. Most parents were consanguineous but some unconsanuineous parents were also reported. We report on 1 male and 1 female infant who had ARC syndrome from 2 unrelated families. They were born from unconsanguineous parents.

• Journal of Life Science
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• v.10 no.2
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• pp.14-16
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• 2000

Genetic variation of hemoglobin and erythrocyte ganglisoside monooxygenase were analyzed in Korean nature dog Sapsarees by horizontal starch gel electrophoresis and thin layer chromatography. Hemoglobin has three phenotypes A, B and AB, which are controlled by two codominant alleles, {TEX}$Hb^{a}${/TEX} and {TEX}$Hb^[b}${/TEX}, at one autosomal locus. Gene frequencies of {TEX}$Hb^{a}${/TEX} and {TEX}$Hb^{b}${/TEX} were 0.537 and 0.4625. Ganglioside monooxygenase has two phenotypes, dominant and recessive. They are controlled by a dominant allele {TEX}$Gmo^{a}${/TEX} and a recessive allele {TEX}$Gmo^{g}${/TEX}. Frequencies of {TEX}$Gmo^{a}${/TEX} and {TEX}$Gmo^{g}${/TEX} were 0.5477 and 0.4523.

• Journal of Genetic Medicine
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• v.18 no.1
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• pp.44-47
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• 2021

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.

• Journal of Interdisciplinary Genomics
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• v.4 no.1
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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.

• Journal of Genetic Medicine
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• v.16 no.2
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• pp.62-66
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• 2019

Harlequin ichthyosis (HI, OMIM #242500) is one of the most severe skin diseases among the autosomal recessive congenital ichthyoses, with high morbidity and mortality, particularly in newborns. Clinically, it is characterized by a typical appearance of generalized, thick, yellowish, hyperkeratotic plates with deep erythematous fissures on the skin. Herein, we present the case of a newborn girl with HI that was genetically confirmed by targeted gene panel analysis. The premature baby was encased in an opaque white membrane with erosion covering the skin of the entire body except the lips, with her hands and feet restricted by the membrane. Humidification, emollient, and retinoic acid treatment were started; the thick ichthyosis gradually peeled off and the underlying skin was only covered with thin scales. Targeted gene panel analysis using next-generation sequencing and validation with Sanger sequencing and quantitative polymerase chain reaction analyses confirmed compound heterozygous mutations of the ABCA12 gene (p.N1380S and a partial gene deletion encompassing exon 9). The parents were carriers for each of the identified mutations. Early recognition of the genetic etiology of congenital ichthyosis can, thus, facilitate genetic counseling for patients and their families.

• Journal of the korean academy of Pediatric Dentistry
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• v.25 no.2
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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 Genetic Medicine
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• v.18 no.2
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• pp.127-131
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• 2021

Autosomal recessive spinocerebellar ataxia 20 (SCAR20; OMIM #616354) is a recently described disorder that is characterized by ataxia, intellectual disability, cerebellar atrophy, macrocephaly, coarse face, and absent speech. It is caused by loss-of-function mutations in SNX14. To date, all cases with homozygous pathogenic variants have been identified in consanguineous families. This report describes the first Korean cases of SCAR20 family caused by homozygous variants in SNX14. Two siblings were referred to our clinic because of severe global developmental delay. They presented similar facial features, including a high forehead, long philtrum, thick lips, telecanthus, depressed nasal bridge, and broad base of the nose. Because the older sibling was unable to walk and newly developed ataxia, repeated brain magnetic resonance imaging (MRI) was performed at the age of 4 years, revealing progressive cerebellar atrophy compared with MRI performed at the age of 2 years. The younger sibling's MRI revealed a normal cerebellum at the age of 2 years. Whole-exome sequencing was performed, and homozygous variants, such as c.2746-2A>G, were identified in SNX14 from the older sibling. Sanger sequencing confirmed homozygous SNX14 variants in the two siblings as well as a heterozygous variant in both parents. This report extends our knowledge of the phenotypic and mutational spectrum of SCAR20. We also highlight the importance of deep phenotyping for the diagnosis of SCAR20 in individuals with developmental delay, ataxia, cerebellar atrophy, and distinct facial features.

• Journal of Life Science
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• v.31 no.5
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• pp.453-463
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• 2021

Hearing loss is a group of clinically and genetically heterogeneous disorders characterized by congenital- to adult-onset deafness with frequent additional symptoms such as myopathy, nephropathy, and optic disorders. It is commonly divided into two types: syndromic, with no other symptoms, and nonsyndromic, with other symptoms. Autosomal recessive hearing loss is relatively frequent in Pakistan, which may be due in part to frequent consanguineous marriages. This study was performed by whole exome sequencing to determine the genetic causes in two Pakistani consanguineous families with autosomal recessive hearing loss. We identified a pathogenic homozygous variant (p.Leu326Gln in MYO7A) in a family with prelingual-onset hearing loss and two variants of uncertain significance (p.Val3094Ile in GPR98 and p.Asp56Gly in PLA2G6) in a family with early-onset hearing loss concurrent with muscular atrophy. The missense mutations in MYO7A and PLA2G6 were located in the highly conserved sites, and in silico analyses predicted pathogenicity, while the GPR98 mutation was located in the less conserved site, and most in silico analysis programs predicted its nonpathogenic effect. Homozygosity mapping showed that both alleles of the homozygous mutations identified in each family originated from a single founder; spread from this single source might be due to consanguineous marriages. This study will help provide exact molecular diagnosis and treatment for autosomal recessive hearing loss patients in Pakistan.

• Journal of Genetic Medicine
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• v.10 no.2
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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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• v.24 no.1
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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.