• Journal of Korean Neurosurgical Society
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• v.29 no.11
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• pp.1415-1420
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• 2000

Essential tremor(ET) is the most common movement disorder however there has been little agreement in the neurologic literature regarding diagnostic criteria for ET. Familial ET is an autosomal dominant disorder presenting as an isolated postural tremor. The main feature of ET is postural tremor of the arms with later involvement of the head, voice, or legs. In previous studies, it was reported that ET susceptibility was inherited in an autosomal dominant inheritance. As with previous results, it would suggest that ET might be associated with defect of mitochondrial or nuclear DNA. Recent studies are focusing molecular genetic detection of movement disorders, such as essential tremor and restless legs syndrome. Parkinson's disease(PD) is a neurodegenerative disease involving mainly the loss of dopaminergic neurons in substantia nigra by several factors. The cause of dopaminergic cell death is unknown. Recently, it has been suggested that Parkinson's disease many result from mitochondrial dysfunction. The authors have analysed mitochondrial DNA(mtDNA) from the blood cell of PD and ET patients via long and accurate polymerase chain reaction(LA PCR). Blood samples were collected from 9 PD and 9 ET patients. Total DNA was extracted twice with phenol followed by chloroform : isoamylalcohol. For the analysis of mtDNA, LA PCR was performed by mitochondrial specific primers. With LA PCR, 1/3 16s rRNA~1/3 ATPase 6/8 and COI~3/4 ND5 regions were observed in different patterns. But, in the COI~1/3 ATPase 6/8 region, the data of PCR were observed in same pattern. This study supports the data that ET and PD are genentic disorders with deficiency of mitochondrial DNA multicomplexes.

• Toxicological Research
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• v.21 no.2
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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.

• Journal of Genetic Medicine
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• v.9 no.2
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• pp.93-97
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• 2012

Kniest syndrome (OMIM #156550) is a rare autosomal dominant disorder caused by a dysfunction of type II collagen, which is encoded by the COL2A1 gene (OMIM +120140) mapped to chromosome 12q13.11. Type II collagen, a molecule found mostly in the cartilage and vitreous tissues, is essential for the normal development of bones and other connective tissues. Kniest syndrome is a type II collagenopathy that presents as skeletal abnormality associated with disproportionate dwarfism, kyphoscoliosis, enlarged joints, visual loss, hearing loss, and cleft palate. This report describes a Korean patient with Kniest syndrome who was diagnosed with typical clinical features and radiologic findings. The patient presented with disproportionately short stature and kyphoscoliosis from birth. A skeletal survey revealed fused lamina in the thoracic spine, hemivertebrae, flexion deformities in multiple joints, and plagiocephaly.

• Imaging Science in Dentistry
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• v.47 no.2
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• pp.129-133
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• 2017

Dentinogenesis imperfecta is a dominant autosomal hereditary disorder of dentin formation that affects the deciduous and permanent teeth. Its etiology is characterized by inadequate cell differentiation during odontogenesis. The clinical characteristics of dentinogenesis imperfecta are discolored teeth with a translucency that varies from gray to brown or amber. Radiographically, the teeth exhibit pulp obliteration, thin and short roots, bell-shaped crowns, and periapical bone rarefaction. The aim of this report was to present a case of dentinogenesis imperfecta type II that was followed up over a 17-year period. This report also presents scanning electron microscopy images of the enamel and dentin, showing that both were altered in the affected teeth. The disease characteristics and the treatments that were administered are reported in this study to guide dentists with respect to the need for early diagnosis and adequate follow-up to avoid major sequelae.

• Journal of the korean academy of Pediatric Dentistry
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• v.41 no.2
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• pp.166-173
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• 2014

The basal cell nevus syndrome is also known as the Gorlin-Goltz syndrom. It is a dominant autosomal disorder which is characterized by keratocystic odontogenic tumors in the jaw, skeletal abnormalities, and multiple basal cell nevi carcinomas. This study reports an 11-year-old boy with multiple odontogenic keratocysts in the jaw, hypertelorism, and frontal bossing. When a young patient has cystic lesions with an impacted permanent teeth, it is important to preserve the teeth. For a growing patient with impacted permanent teeth, a more conservative method is suggested, which will enable the preservation the permanent teeth in Gorlin-Goltz syndrome.

• Neonatal Medicine
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• v.18 no.2
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• pp.374-378
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• 2011

Noonan syndrome is an autosomal dominant disorder characterized by typical facial features, congenital heart disease, and short stature. Diagnosis is difficult only with clinical symptoms and it is recently confirmed with gene study. The genotype-phenotype correlations have been reported. We report a newborn with KRAS gene mutation. This is the second report of case with KRAS gene mutation in Korea. So we hope this case will be a help to diagnosis and treatment of Noonan syndrome from birth.

• The Journal of the Korean bone and joint tumor society
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• v.15 no.2
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• pp.160-164
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• 2009

The osteopoikilosis is a rare disorder characterized by multiple radiodensities in the metaphysis or in the epiphysis of long tubular bones. The etiology and pathogenesis remain obscure, generally transmitted as an autosomal dominant fashion. The osteopoikilosis is asympotomatic and it is usually found radiologically as an incidental finding. Our case shows a typical clinical feature of the osteopoikilosis, and the biopsy was done to differentiate other disease from the osteopoikilosis.

• Clinical and Experimental Pediatrics
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• v.54 no.11
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• pp.473-476
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• 2011

Primary hypokalemic periodic paralysis (HOKPP) is an autosomal dominant disorder manifesting as recurrent periodic flaccid paralysis and concomitant hypokalemia. HOKPP is divided into type 1 and type 2 based on the causative gene. Although 2 different ion channels have been identified as the molecular genetic cause of HOKPP, the clinical manifestations between the 2 groups are similar. We report the cases of 2 patients with HOKPP who both presented with typical clinical manifestations, but with mutations in 2 different genes ($CACNA1S$ p.Arg528His and $SCN4A$ p.Arg672His). Despite the similar clinical manifestations, there were differences in the response to acetazolamide treatment between certain genotypes of $SCN4A$ mutations and $CACNA1S$ mutations. We identified p.Arg672His in the $SCN4A$ gene of patient 2 immediately after the first attack through a molecular genetic testing strategy. Molecular genetic diagnosis is important for genetic counseling and selecting preventive treatment.

• The korean journal of orthodontics
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• v.43 no.5
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• pp.248-260
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• 2013

Cleidocranial dysplasia (CCD), an autosomal dominant disorder with a prevalence of 1 in 1,000,000 individuals, is mainly caused by mutations in Runx2, a gene required for osteoblastic differentiation. It is generally characterized by hypoplastic clavicles, narrow thorax, and delayed or absent fontanel closure. Importantly, its orofacial manifestations, including midfacial hypoplasia, retained primary teeth, and impacted permanent and supernumerary teeth, severely impede the well-being of affected individuals. Successful treatment of the orofacial problems requires the combined efforts of dental specialists. However, only a few successfully treated cases have been reported because of the rarity of CCD and complexity of the treatment. This article presents the University of California, San Francisco (UCSF) treatment protocol for the dentofacial manifestations of CCD based on two treated and 17 diagnosed cases. The records of two patients with CCD who had been treated at the UCSF School of Dentistry and the treatment options reported in the literature were reviewed. The UCSF treatment protocol produced a successful case and a partially successful one (inadequate oral hygiene in the retention stage resulted in decay and loss of teeth). It provides general guidelines for successfully treating the orofacial manifestations of CCD.

• Journal of Genetic Medicine
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• v.10 no.1
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• pp.47-51
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• 2013

Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder caused by heterozygous mutations in the genes encoding transforming growth factor-${\beta}$ receptor type 1 or 2. It is typically characterized by a triad of hypertelorism, cleft palate or bifid uvula, and arterial tortuosity with aneurysm or dissection. Characteristic vascular abnormalities such as tortuosity, aneurysms, dissections, and stenosis are the most severe complications of LDS and can occur in the neurovascular system. We report a 5-year-old boy who presented with headaches and neurovascular abnormalities and was diagnosed with LDS with a novel mutation of the TGFBR1 gene. It is the first Korean report of neurovascular abnormalities in LDS.