• Journal of Genetic Medicine
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• 제18권2호
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• pp.101-104
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• 2021

Xp21 contiguous gene deletion syndrome is associated with complex glycerol kinase deficiency, congenital adrenal hypoplasia, Duchene muscular dystrophy, and intellectual disability. Xp21 gene deletion syndrome is X-linked recessive, so most symptomatic patients are male, and only a few female symptomatic patients have been reported. We report the first female Korean case of an Xp21 deletion. NGS data were analyzed for copy number variation, and the Xp21 deletion (chr X: 29301056-31838200) was confirmed using real-time PCR.

• Genes and Genomics
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• 제40권11호
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• pp.1149-1155
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• 2018

Epileptic encephalopathies are genetically heterogeneous disorders which leads to epilepsy and cause neurological disorders. Seizure threshold 2 (SZT2) gene located on chromosome 1p34.2 encodes protein mainly expressed predominantly in the parietal and frontal cortex and dorsal root ganglia in the brain. Previous studies in mice showed that mutation in this gene can confers low seizure threshold, enhance epileptogenesis and in human may leads to facial dysmorphism, intellectual disability, seizure and macrocephaly. Objective of this study was to find out novel gene or novel mutation related to the gene phenotype. We have identified a large consanguineous Saudi family segregating developmental delay, intellectual disability, epilepsy, high forehead and macrocephaly. Exome sequencing was performed in affected siblings of the family to study the novel mutation. Whole exome sequencing data analysis, confirmed by subsequent Sanger sequencing validation study. Our results showed a novel homozygous mutation (c.9368G>A) in a substitution of a conserved glycine residue into a glutamic acid in the exon 67 of SZT2 gene. The mutation was ruled out in 100 unrelated healthy controls. The missense variant has not yet been reported as pathogenic in literature or variant databases. In conclusion, the here detected homozygous SZT2 variant might be the causative mutation that further explain epilepsy and developmental delay in this Saudi family.

• Journal of Genetic Medicine
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• 제20권2호
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• pp.70-74
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• 2023

CCCTC-binding factor (CTCF) is a transcriptional regulator that binds to a complex DNA motif in various orientations and plays a crucial role in regulating gene expression, chromatin restructuring, and developmental processes. Mutations in the CTCF are associated with neurodevelopmental disorders. Here we report the first Korean case with a de novo heterozygous variant in the CTCF (c.1025G>A; p.Arg342His). She showed global developmental delay, failure to thrive, and dysmorphic face, which are phenotypes consistent with previous reports in the autosomal dominant intellectual developmental disorder 21 (MIM 615502). She also showed clinical features not previously reported, such as antral web and tracheobronchomalacia. Our case follows suit and expands understanding of this rare disorder by reporting common features and, on the other hand, unreported concomitant congenital anomalies.

• 한국가족복지학
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• 제23호
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• pp.43-70
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• 2008

본 연구는 지적 장애인을 돌보는 어머니의 사회적 지지가 돌봄 자기효능감에 주는 영향을 분석하였으며, 이 영향이 장애인 자녀가 속한 생애주기에 따라 달라지는가를 탐색하였다. 530명의 사례에 대한 분석 결과, 전체집단에서 어머니가 지각한 사회적 지지가 많을수록 돌봄 자기효능감이 높은 것으로 나타났다. 그런데 자녀 생애주기의 조절효과를 살펴본 결과, 아동의 어머니 집단에 비교해 청소년의 어머니 집단과 성인의 어머니 집단에서 효과의 크기가 통계적으로 유의하게 달랐다. 각 집단에 대한 분석 결과, 아동의 어머니 집단에서는 사회적 지지가 돌봄 자기효능감에 영향을 주지 않은 반면, 청소년의 어머니 집단과 성인의 어머니 집단에서는 사회적 지지가 돌봄 자기효능감에 영향을 주는 것으로 나타났다. 본 연구를 통해 장애인 가족 연구에서 생애발달적 관점이 지지되었으며, 실천적으로는 청소년기와 성인기의 자녀를 둔 장애인 가족에 대한 사회적 지지의 중요성이 더욱 강조되어야 할 것으로 생각되었다.

• 한국콘텐츠학회논문지
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• 제17권9호
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• pp.587-596
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• 2017

본 연구는 장애아동을 둔 부모를 대상으로 작업수행능력과 여가만족도, 양육스트레스를 알아보고, 작업수행능력과 여가만족도가 양육스트레스에 어떠한 영향을 미치는지 알아보고자 하는데 목적이 있다. 자료수집 기간은 2017년 1월 10일부터 2017년 2월 17일까지였으며, 설문지 72부를 분석에 이용하였다. 연구도구는 구조화된 설문지로서 일반적인 특성을 묻는 문항, 양육스트레스 측정도구, 작업수행능력 측정도구, 여가만족을 묻는 측정도구를 사용하였다. 연구결과 장애아동의 일반적 특성에 따른 양육스트레스는 장애아동이 여자이며, 연령이 8~12세인 학령기인 경우, 장애유형이 발달장애와 지적장애인 경우, 장애등급이 1, 2급인 경우, 치료기관이 병원과 사설치료기관인 경우 높게 나타났다. 장애아동 부모의 작업수행능력, 양육스트레스, 여가만족과의 상관관계를 살펴본 결과 서로 유의미한 상관관계를 보였다. 장애아동 부모의 양육스트레스에는 작업수행능력 항목 중 작업, 사회적 통합, 경제적 자립과 여가만족도가 영향을 미치는 것으로 나타났다. 본 연구 결과들은 장애아동 부모의 양육 스트레스 중재를 위한 기초자료로 활용될 수 있을 것이다.

• 한국융합학회논문지
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• 제11권5호
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• pp.229-239
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• 2020

본 연구의 목적은 퇴소를 앞둔 경증지적장애 청소년의 심리치료 상담과정과 자립준비 생활경험에 도움을 주고자 실시하였다. 사례연구의 범주화 내용은 다음과 같다. "서툴고 힘들었지만 추억이 있는 시설생활" "아프고 성장하고 쓸쓸한 나의 사춘기" "의지할 수 없는 존재" "기대감과 두려움의 자립과정"등의 주제로 범주화 할 수 있다. 연구 참여자는 퇴소와 자립준비과정에 대해서 두려움을 가지고 있었으나 심리치료적 개입으로 변화되고 극복되는 의미 있는 결과가 나타났다. 따라서 퇴소를 앞둔 경증지적장애 청소년에 적합한 자립준비와 직업탐색에 치료적 의의가 있다고 할 수 있다.

• Journal of Genetic Medicine
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• 제15권1호
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• pp.38-42
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• 2018

WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome is a rare contiguous gene deletion syndrome caused by deleting genes including WT1 and PAX6 genes in 11p13 region, which is characterized by Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. We report the clinical and cytogenetic characteristics of one Korean patient with WAGR syndrome. The patient shows bilateral sporadic aniridia and genital anomalies at 2 months of age. A heterozygous 14.5 Mb interstitial deletion of 11p14.3p12 region was detected by array comparative genomic hybridization. At 2 years and 10 months of age, Wilms tumor is found through regularly abdominal ultrasonography and treated by chemotherapy, radiation therapy and surgery.

• Journal of Genetic Medicine
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• 제11권1호
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• pp.36-39
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• 2014

Chromosome 3 (3p) deletion syndrome is a rare genomic disorder caused by a deletion at the terminal end of the short arm of chromosome 3. The primary characteristics of the syndrome are delayed development, dysmorphic features, and several other congenital anomalies. Here, we describe the case of a 2-year-old Korean girl with typical features of 3p deletion syndrome, including dysmorphic facial features, low birth weight, developmental delay, growth and cognitive retardation, and congenital heart disease. This case represents the first report of 3p deletion syndrome in Korea. Although phenotypes can be variable among patients, a clinically recognizable pattern has been described for this genetic defect, and our report helps to identify other cases with 3p deletion syndrome from a clinical and genetic perspective.

• Journal of Interdisciplinary Genomics
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• 제2권1호
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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.

• 대한장애인치과학회지
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• 제7권2호
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• pp.115-118
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• 2011

Angelman syndrome(AS) is a rare genetic neurological disorder. The main clinical characteristics of this syndrome are delayed neuropsychological development, intellectual disability, speech impairment, jerky movements especially hand-lapping, frequent laughter or smiling. AS is a classic example of genetic imprinting in that it is usually caused by deletion or inactivation of genes on the maternally inherited chromosome 15. The syndrome has oral manifestations such as diastemas, tongue thrusting, sucking/swallowing disorder, mandibular prognathism, frequent drooling, and excessive chewing behavior. The purpose of this paper is to describe the interesting aspects of the dental treatment of a childe with AS.