Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing

Kim, Min Kyeong,Kwak, Soo Heon,Kang, Shinae,Jung, Hye Seung,Cho, Young Min,Kim, Seong Yeon,Park, Kyong Soo Korean Diabetes Association 2015 Diabetes and Metabolism Journal Vol.39 No.5

<P><B>Background</B></P><P>Alström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness. Alström syndrome is caused by a mutation in the <I>ALMS1</I> gene, and Bardet-Biedl syndrome is caused by mutations in <I>BBS1-16</I> genes. Herein we report genetically confirmed cases of Alström syndrome and Bardet-Biedl syndrome in Korea using whole exome sequencing.</P><P><B>Methods</B></P><P>Exome capture was done using SureSelect Human All Exon Kit V4+UTRs (Agilent Technologies). HiSeq2000 system (Illumina) was used for massive parallel sequencing. Sanger sequencing was used for genotype confirmation and familial cosegregation analysis.</P><P><B>Results</B></P><P>A 21-year old Korean woman was clinically diagnosed with Alström syndrome. She had diabetes, blindness, obesity, severe insulin resistance, and hearing loss. Whole exome sequencing revealed a nonsense mutation in exon 10 of <I>ALMS1</I> (c.8776C>T, p.R2926X) and a seven base-pair deletion resulting in frameshift mutation in exon 8 (c.6410_6416del, p.2137_2139del). A 24-year-old Korean man had Bardet-Biedl syndrome with diabetes, blindness, obesity, and a history of polydactyly. Whole exome sequencing revealed a nonsynonymous mutation in exon 11 of the <I>BBS1</I> gene (c.1061A>G, p.E354G) and mutation at the normal splicing recognition site of exon 7 of the <I>BBS1</I> gene (c.519-1G>T).</P><P><B>Conclusion</B></P><P>We found novel compound heterozygous mutations of Alström syndrome and Bardet-Biedl syndrome using whole exome sequencing. The whole exome sequencing successfully identified novel genetic variants of ciliopathy-associated diabetes.</P>

거버넌스: 신드롬 또는 새로운 행정학 이론?

이명석 ( Myungsuk Lee ) 성균관대학교 국정관리대학원 2016 국정관리연구 Vol.11 No.3

정부에 대한 뿌리 깊은 불신으로 거버넌스라는 개념이 유행하게 되었음에도 불구하고, 관료제 패러다임이 여전히 행정학 주류 이론의 위치를 지키고 있다. 이것이 바로 거버넌스 신드롬이다. 거버넌스 신드롬의 가장 큰 부작용은 충분하지 못한 공공부문의 개혁과 이로 인한 사회문제의 악화이다. 만일 거버넌스가 관료제 패러다임과 차별화되지 못하고 관료제 패러다임의 단점을 보완하는 수단으로만 이해된다면 거버넌스는 기각된 또 하나의 대안이 될 수밖에 없다. 거버넌스 신드롬을 극복하기 위해서 거버넌스는 계층제적 통제와는 본질적으로 차별화되는 새로운 사회문제 해결 양식으로 이해되어야 한다. 사회적 조정 양식으로서의 네트워크의 논리에 근거하는 거버넌스는 집합행동의 문제에 취약할 수밖에 없다. 그러므로 거버넌스의 출현과 성공의 조건을 설명할 수 있는 제2세대 거버넌스 이론이 요구된다. 계층제 중독 극복방안과 다양한 사회문제 해결방식의 적용조건을 다루는 제2세대 거버넌스 이론의 구축이 새로운 행정학 이론으로서의 거버넌스 이론의 핵심 과제이다. A deep distrust of the government has ignited popularity to the term “governance.” However, the bureaucratic paradigm still remains at the core of the mainstream Public Administration theory. It is the so-called “governance syndrome.” The most serious side effects of the governance syndrome are insufficient reforms in the public sector and the consequent exacerbation of social issues. If governance cannot be differentiated from the bureaucratic paradigm and is only understood as its complement, governance may be another rejected alternative. Governance should be understood as a new mode of social coordination that is completely differentiated from hierarchical direction, the traditional mode of social coordination. Governance, based on the logic of network mode of social coordination, is vulnerable to the collective action problems. The second generation of governance theories needs to explain and predict when and how governance is possible. The key task of governance theory as a new Public Administration theory is to construct the second generation governance theory, which focuses on the conditions of the new mode of social coordination and the solutions to overcome the addiction to hierarchy.

ITU-T J.83 ANNEX B의 Parity Checksum Generator를 위한 병렬 처리 구조

이종엽(Jong-yeop Lee),홍언표(Eon-pyo Hong),하동수(Dong-soo Har),임회정(Hoi-Jeong Lim) 한국통신학회 2009 韓國通信學會論文誌 Vol.34 No.6

병렬 CRC 생성 방식을 활용한 BCH 코드 복호기 설계

갈홍주(Hong Ju Kal),문현찬(Hyun Chan Moon),이원영(Won Young Lee) 한국전자통신학회 2018 한국전자통신학회 논문지 Vol.13 No.2

본 논문은 병렬 CRC 생성 방식을 적용한 BCH 코드 복호기를 소개한다. 기존에 사용되는 병렬 신드롬 생성기로 LFSR(: Linear Feedback Shift Register)을 변형한 방식을 사용하면 짧은 길이의 코드에 적용하는 데 많은 면적을 차지한다. 제안하는 복호기는 짧은 길이 코드워드의 복호화를 위해 병렬 CRC(: Cyclic Redundancy Check)에서 체크섬을 계산하는 데 사용되는 방식을 활용하였다. 이 방식은 병렬 LFSR과 비교해 중복된 xor연산을 제거해 최적화된 조합회로로 크기가 작고 짧은 전파지연을 갖는다. 시뮬레이션 결과 기존 방식 대비 최대 2.01ns의 지연시간 단축 효과를 볼 수 있다. 제안하는 복호기는 0.35-μm CMOS 공정을 이용하여 설계하고 합성되었다. This paper introduces a BCH code decoder using parallel CRC(: Cyclic Redundancy Check) generation. Using a conventional parallel syndrome generator with a LFSR(: Linear Feedback Shift Register), it takes up a lot of space for a short code. The proposed decoder uses the parallel CRC method that is widely used to compute the checksum. This scheme optimizes the a syndrome generator in the decoder by eliminating redundant xor operation compared with the parallel LFSR and thus minimizes chip area and propagation delay. In simulation results, the proposed decoder has accomplished propagation delay reduction of 2.01 ns as compared to the conventional scheme. The proposed decoder has been designed and synthesized in 0.35-μm CMOS process.

노무현 정부의 386정치인들의 도덕적 실패에 대한 연구

김태승(Kim, Tae Seung) 한국정치학회 2011 한국정치학회보 Vol.45 No.4

리더의 도덕성이 성공적 리더십의 전제요건이라는 당연한 사실에도 불구하고 한국의 정치리더십 연구는 주로 리더의 성공전략과 위기관리 능력, 카리스마와 같은 재능 등에 그 초점을 두어왔다. 본 연구는 이러한 문제인식 하에 정치리더들의 도덕적 실패의 원인을 살펴본다. 구체적으로 성공한 리더들의 도덕적 실패를 설명하는 밧세바 신드롬이란 가설을 통해 노무현 정권의 386정치인들의 도덕적 실패사례들을 살펴보고 있다. 밧세바 신드롬이란 성공한 정치리더가 성공에서 비롯되는 목표상실과 감정적 변화로 인해 기존의 바람직한 행동성향을 고수하지 못하며 더 나아가 새로운 환경에 알맞은 역할인식을 정립하지 못해 도덕적 실패를 경험한다는 가설이다. 연구결과 일부 386 정치인들은 기존의 도덕적 기준과 목표의식의 상실로 인해 올바른 역할인식과 정체성의 정립에 실패하였고, 그 결과 정치적 성공으로 획득한 자원에 대한 특권적 접근가능성과 권력을 부적절하게 사용함으로써 윤리적 리더십의 실패를 경험하게 되었다는 사실을 알 수 있었다. The studies of political leadership in Korea have not been concerned with the ethical leadership of political leaders, even though a lot of political leaders have suffered from moral failure. So this paper tries to explain the reasons for the moral failure of some political leaders of Korea, so-called ‘the 386 politicians,’ related with Bathsheba Syndrome which is a hypothesis that successful leaders may experience moral failure because they cannot establish the proper role recognition as a leader owing to both a loss of their goals and emotional expansion. The result of the study shows that the ethical leadership of the 386 politicians failed since they could not properly control their new political power and privileged access to the resources resulting from their political success.

Wide heterogeneity of congenital myasthenic syndromes: analysis of clinical experience in a tertiary center

Anna Cho,Soo Yeon Kim,Jin Sook Lee,Byung Chan Lim,Hunmin Kim,Hee Hwang,Jong-Hee Chae 대한의학유전학회 2020 대한의학유전학회지 Vol.17 No.2

Purpose: Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of disorders characterized by impaired neuromuscular transmission. This study aims to provide the clue for early diagnosis and improved therapeutic strategies in CMS. Materials and Methods: Through the targeted panel sequencing including twenty CMS causative genes, eleven patients were genetically confirmed and enrolled in this study. A retrospective medical record review was carried out for the clinical and laboratory data analysis. Results: The age of patients ranged from 5 to 23 years, with the median age of 16 years. The peak age at onset of symptoms was the neonatal period. Seven out of the eleven patients were symptomatic at birth. The most commonly reported initial finding was generalized hypotonia with poor sucking and crying. Mean time to accurate diagnosis was 9.3±5.0 years. Total fifteen different variants in seven genes associated with CMS (DOK7, AGRN, RAPSN, CHRNE, COLQ, SLC5A7, and GFPT1) were identified. Conclusion: We describe the clinical and genetic characteristics of CMS patients and treatment outcome in a single tertiary center. High clinical suspicion and timely molecular diagnosis is particularly important for the tailored therapy to maximize clinical improvement in CMS.

MZ세대의 주택구매 의사결정 영향요인에 관한 연구 : “영끌” 현상을 중심으로

최남순,최민섭 한국도시부동산학회 2023 도시부동산연구 Vol.14 No.1

This study aims to analyze the “YoungKle” phenomenon that has occurred since 2016 as a factor influencing the decision to purchase a house. Housing prices soared as liquidity that wanted to invest was flocking to the real estate market due to the overlapping low-interest rates in the loan market and abundant liquidity in the market. The “YoungKle” phenomenon occurred in the housing market when the MZ generation feared that they would not be able to have their own house for the rest of their lives due to the news of the rapid soaring in house prices, so used all possible loans with their parent's help to buy their housing. Investment in real estate requires clear risk analysis and yield analysis, so must be determined based on reasonable judgment, nevertheless, panic buying occurred. This study analyzes the influencing factors of decision-making and satisfaction with housing purchases of the MZ generation who had experience in purchasing houses from 2016 to recently, and it presents implications for making reasonable housing purchase judgments in the future.

The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing

Choi, Eun Mi,Lee, Dong Hyun,Kang, Seok Jin,Shim, Ye Jee,Kim, Heung Sik,Kim, Joon Sik,Jeong, Jong In,Ha, Jung-Sook,Jang, Ja-Hyun The Korean Pediatric Society 2018 Clinical and Experimental Pediatrics (CEP) Vol.61 No.12

Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP mutation. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in Korea yet. Floating-Harbor syndrome is characterized by delayed bony maturation, unique facial features, and language impairment. Here, we present a 6-year-old boy with a triangular face, deep-set protruding eyes, low-set ears, wide nose with narrow nasal bridge, short philtrum, long thin lips, clinodactyly, and developmental delay that was transferred to our pediatric clinic for genetic evaluation. He showed progressive delay in the area of language and cognition-adaption as he grew. He had previously undergone chromosomal analysis at another hospital due to his language delay, but his karyotype was normal. We performed targeted exome sequencing, considering several syndromes with similar phenotypes. Library preparation was performed with the TruSight One sequencing panel, which enriches the sample for about 4,800 genes of clinical relevance. Massively parallel sequencing was conducted with NextSeq. An identified variant was confirmed by Sanger sequencing of the patient and his parents. Finally, the patient was confirmed as the first Korean case of Floating-Harbor syndrome with a novel SRCAP (Snf2 related CREBBP activator protein) mutation (c.7732dupT, p.Ser2578Phefs*6), resulting in early termination of the protein; it was not found in either of his healthy parents or a control population. To our knowledge, this is the first study to describe a boy with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing in Korea.

The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing

최은미,이동현,강석진,심예지,김흥식,김준식,정종인,하정숙,장자현 대한소아청소년과학회 2018 Clinical and Experimental Pediatrics (CEP) Vol.61 No.12

Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP muta tion. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in Korea yet. Floating-Harbor syndrome is characterized by delayed bony maturation, unique facial features, and language impairment. Here, we present a 6-year-old boy with a triangular face, deep-set protruding eyes, low-set ears, wide nose with narrow nasal bridge, short philtrum, long thin lips, clinodactyly, and developmental delay that was transferred to our pediatric clinic for genetic evaluation. He showed progressive delay in the area of language and cognition-adaption as he grew. He had previously undergone chromosomal analysis at another hospital due to his language delay, but his karyotype was normal. We performed targeted exome sequencing, considering several syndromes with similar pheno types. Library preparation was performed with the TruSight One sequencing panel, which enriches the sample for about 4,800 genes of clinical relevance. Massively parallel sequencing was conducted with NextSeq. An identified variant was confirmed by Sanger sequencing of the patient and his parents. Finally, the patient was confirmed as the first Korean case of Floating-Harbor syndrome with a novel SRCAP (Snf2 related CREBBP activator protein) mutation (c.7732dupT, p.Ser2578Phefs*6), resulting in early termination of the protein; it was not found in either of his healthy parents or a control population. To our knowledge, this is the first study to describe a boy with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing in Korea.

아스퍼거증후군 아동의 이야기 자발적산출 및 회상산출 능력 비교

박지혜(Ji Hye Park),이윤경(Yoonkyoung Lee) 한국언어청각임상학회 2006 Communication Sciences and Disorders Vol.11 No.3

본 연구는 아스퍼거증후군 아동들이 자발적산출과 회상산출 조건에서 이야기 산출에 차이를 보이는가를 언어능력을 일치시킨 일반아동과의 비교를 통해 살펴보았다. 연구대상은 언어능력이 6세 수준 이상이며 이야기 산출이 가능한 아스퍼거증후군 아동 10명과 이 아동들과 언어연령을 일치시킨 일반아동 10명을 대상으로 하였다. 이야기는 Mayer(1977)가 제시한 글자없는 그림책에서 두 개의 이야기를 사용하여 수집하였다. 두 개의 이야기는 낱말의 수, 문장구조, 이야기 문법 구조를 최대한 일치시켰으며, 두 개의 이야기 수집 조건에 교차균형화하여 사용하였다. 수집된 자료는 이야기 길이, 완전한 일화 수 그리고 이야기 문법 구조의 세 가지 측면으로 분석하였다. 연구결과는 다음과 같다. (1) 이야기 길이는 두 집단 아동 모두 자발적산출보다 회상산출에서 유의하게 더 길게 산출하였다. (2) 완전한 일화 수 역시 두 집단 아동 모두 자발적산출보다 회상산출에서 많았으나, 유의한 차이는 일반아동집단에서만 나타났다. (3) 이야기 문법의 경우, 두 아동 집단 모두 회상산출에서 모든 이야기 문법 요소들이 더 많이 산출되었다. 그러나 통계적 차이는 일반아동 집단에서는 시도 범주에서만, 아스퍼거증후군 집단에서는 배경과 내적반응 범주에서만 관찰되었다. 이러한 결과는 아스퍼거증후군 아동의 이야기 특성 및 이야기 자료 수집 조건에 대한 선행 연구와 관련지어 논의하였다. The purpose of this study was to examine narrative abilities of children with Asperger’s syndrome between two different conditions of story production: story generation and story recall. Ten children with Asperger’s syndrome older than 6 years old and ten language-matched normal children participated in this study. Two stories chosen from the wordless picture book ‘Oops’ (Mayer, 1977) were used for selecting story samples. Both stories were composed of two episodes and controlled in terms of the word numbers, sentence structures and story construction. The story grammar, story length, and frequencies of complete episode were analyzed. The Asperger children group produced shorter story length, lower frequency of complete episode and fewer amount of story grammar components compared to the control group. Theses results were discussed in relation to the narrative abilities in two conditions of story production of children with autism spectrum disorder.