• Journal of Interdisciplinary Genomics
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• v.2 no.2
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• pp.13-17
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• 2020

Infantile nystagmus syndrome (INS) is a genetically heterogeneous disorder. To date, more than 100 genes have been reported to cause INS and there is significant overlap in phenotypic characteristics. The most common form of X-linked INS is attributed to FRMD7 at Xq26. Recent advances in molecular genetics have facilitated the identification of pathogenic variants of FRMD7 and the investigation for underlying mechanisms of FRMD7-associated INS. This review summarizes genetic and clinical features of FRMD7-associated INS, and introduces updates on the pathogenesis of FRMD7 mutation.

• Journal of Genetic Medicine
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• v.4 no.2
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• pp.115-121
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• 2007

Hereditary motor and sensory neuropathy (HMSN; Charcot-Marie-Tooth disease, CMT) was first described by Charcot and Marie in France and, independently, by Tooth in England in 1886. HMSN is the most common form of inherited motor and sensory neuropathy, and is a genetically heterogeneous disorder of the peripheral nervous system. Using positional cloning methods, the chromosomal localization (locus) of more than 40 inherited peripheral neuropathies was found in the last 15 years. However, these genetic analyses also show that many entities do not show linkage to the known loci. This issue deals with a clinical survey of inherited peripheral neuropathies regarding diagnostic approaches based on the molecular findings.

• Journal of Interdisciplinary Genomics
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• v.2 no.1
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• pp.10-12
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• 2020

Coffin-Lowry syndrome (CLS) is a genetic disorder characterized by intellectual disability, typical facial features, and skeletal abnormalities. But this syndrome shows highly variable clinical manifestations, and can't be diagnosed with conventional chromosome analysis or comparative genomic hybridization, leading to delayed diagnosis. Here we report an 18-year-old boy with CLS diagnosed by whole exome sequencing. Our patient initially presented with developmental delay, facial dysmorphism at the age of 1. At the age of 18, he developed orthopnea due to mitral regurgitation. At the 22 years of age, he was diagnosed as CLS diagnosed by whole exome sequencing. Our case implies that clinical suspicion is important for early diagnosis, and advanced diagnostic tools such as WES should be considered in suspected cases.

• Journal of Genetic Medicine
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• v.10 no.1
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• pp.13-19
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• 2013

Retinitis pigmentosa (RP) is the most common hereditary retinal disorder and is characterized by progressive retinal degeneration and decline in vision. RP comprises a heterogeneous group of disorders caused by various genetic variants. Since the first discovery of the causal mutation in the RHO gene using positional cloning, numerous mutations have been detected in more than 60 loci and 50 genes. However, causal genes have not been discovered in about 50% of cases. We attempt here to review the strategies to identify causal alleles of retinitis pigmentosa. These include conventional methods as well as state-of-the-art technologies based on next-generation sequencing.

• Clinical and Experimental Pediatrics
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• v.53 no.12
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• pp.1018-1021
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• 2010

Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the $SALL1$ gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome. Structural vertebral abnormalities, hypoplasia of the thumb, and radial bone abnormalities, which are not usually associated with TBS, help in the differential diagnosis of these syndromes. We report the case of a family whose members were diagnosed with TBS with congenital hypothyroidism and had a novel $SALL1$ gene mutation.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.2
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• pp.75-80
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• 2013

Specific genetic conditions may lead to sudden unexpected deaths in infancy, such as inborn errors of fatty acid oxidation and genetic disorders of cardiac ion channels. The disease may present dramatically with severe hypoketotic hypoglycemia, Reye syndrome or sudden death, typically with a peak of frequency around 3-6 month, whilst neonatal sudden death is quite rare. When undetected, approximately 20-25% of infants will die or suffer permanent neurologic impairment as a consequence of the first acute metabolic decompensation. Meanwhile, the advent of newborn screening for metabolic diseases has revealed populations of patients with disorders of fatty acid oxidation (FAO), the most frequent of which is medium chain acyl-CoA dehydrogenase (MCAD) deficiency. Without this screening, affected individuals would likely succumb to sudden infant death syndrome (SIDS). Here we describe an overview of sudden infant death syndrome and inherited metabolic disorder.

• Sleep Medicine and Psychophysiology
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• v.28 no.2
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• pp.43-52
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• 2021

Restless Legs Syndrome/Willis-Ekbom Disease (RLS/WED) is a sleep disorder characterized by sensorimotor symptoms such as unpleasant sensations before sleep, akathisia, and periodic limb movements during sleep. It is also closely related to hyperarousal and is often accompanied by insomnia. Although the mechanism is not clear, the understanding of etiology and pathophysiology has greatly expanded through recent advances in genetic and neurobiological research. The most important pathophysiology of RLS/WED is brain iron deficiency. Such iron deficiency in the brain is caused by complex interactions between several genetic factors and various environmental factors, including comorbidities. Iron deficiency in the brain results in dysfunction of several neurotransmitters. A decrease in adenosine activity appears first, followed by an increase in the activity of glutamate and dopamine. A decrease in adenosine activity and an increase in glutamate activity stimulate the brain arousal system, resulting in hyperarousal. In addition, overproduction of dopamine and glutamate leads to dysfunction of the cortical-striatal-thalamic circuit, resulting in symptoms such as akathisia and periodic limb movements during sleep.

• Journal of the Korean Society of Physical Medicine
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• v.18 no.4
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• pp.29-35
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• 2023

PURPOSE: High-intensity physical therapy may help improve some gross motor developmental delays through an increased treatment frequency. This study describes an increase in physical therapy frequency and intensity over an eight-week time frame for a child with a rare genetic neurodevelopmental disorder. METHODS: A single-subject research was performed. The subject was a nine-year-old boy with MECP2 Duplication Syndrome. The outcome measure consisted of one time before and after the intervention. An intensive physical therapy program was applied to this subject. The treatments included reciprocal crawling, high kneeling, tailor sitting, weight-bearing and shifting training to facilitate ankle balance strategies and training to walk without assistance. RESULTS: After the eight-week follow-up, the child achieved a gradual improvement in the gross motor function measures, and the mother reported that the child frequently engaged in tailor sitting and independently walking. CONCLUSION: This case study highlights that intensive physical therapy improved the overall motor function of a child with MECP2 duplication syndrome.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.16 no.1
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• pp.54-62
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• 2005

Objective : Attention deficit hyperactivity disorder (ADHD) is the most common childhood psychiatric disorder, affecting $3-5\%$ of school age children. Although the biological basis of ADHD is unknown, family studies provide strong evidence that ADHD has a genetic basis. Recent genetic studies have suggested associations between ADHD and Taq I polymorphism of dopamine beta hydroxylase gene(DBH) . The aim of this study is to test the association between ADHD and Taq I polymorphism of DBH in Korean population. Method : We processed DNA extraction and genotyping for 106 korean children with ADHD and their parents. Genotyping was additionally performed for 212 age and gender matched normal controls. Case-control association study was applied. And we tested the association using the transmission disequilibrium test (TDT) and haplotype-based haplotype relative risk test (HHRR). Results : There were no statistical differences of genotype distributions between cases and controls. However, we did observe preferential transmission of allele Al of DBH Taq T polymorphism in ADHD. Conclusion : On the whole, our results lend credence to the notion that the relationship between ADHD and DBH is complex. The number of cases and informative transmissions were small, therefore it would be premature to make any conclusions from our study concerning the role of DBH in ADHD. Further work is needed to support these findings.

• Proceedings of the PSK Conference
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• 2002.10a
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• pp.431.2-432
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• 2002

Mucopolysaccharidosis (MPS) is a genetic disorder with deficiency of Iysomal enzymes needed for the degradation of glycosaminoglycans(GAGs). This storage disease is characterized by intra-lysosomal accumulation of GAGs. progressive mental and physical deterioration. multi-organ failure and premature death. Quality of life (QOL) is very low in MPS patients. The MOS 36-ltem Short Form Health Survey (SF-36) was designed to measure the eight (8) dimensions of health in clinical and general population settings. (omitted)