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A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia

Son YY, Lee B, Suh CR, Nam HK, Lee JH, Hong YS, Lee JW

CHARGE syndrome (coloboma, heart defects, atresia choanae, retarded growth and development, genital hypoplasia, and ear abnormalities) is characterized by multiple malformations and is diagnosed using distinct consensus criteria. Mutations in...
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An unusual de novo duplication 10p/deletion 10q syndrome: The first case in Korea

Lee BY, Park JY, Lee YW, Oh AR, Lee SY, Choi EY, Kim MY, Ryu HM, Park SY

We herein report an analysis of a female baby with a de novo dup(10p)/del(10q) chromosomal aberration. A prenatal cytogenetic analysis was performed owing to abnormal ultrasound findings including a choroid...
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Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutation

Seo YJ, Lee KE, Ko JM, Kim GH, Yoo HW

Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the classic triad of congenital anomalies of the anus, thumbs, and ears, with variable expressivity. Additionally, renal malformations, cardiac anomalies,...
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Analysis of trinucleotide repetitive sequences for Korean patients with spinocerebellar ataxia types 8, 12, and 17

Kim GH, Chung SJ, Ryu HS, Kim J, Lee JJ, Choi SH, Lee J, Lee BH, Choi JH, Yoo HW

PURPOSE: Spinocerebellar ataxias (SCAs) are progressive neurodegenerative disorders with diverse modes of inheritance. There are several subtypes of SCAs. SCA 8, SCA 12, and SCA 17 are the less common...
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Neurogenic potentials of human amniotic fluid-derived stem cells according to expression levels of stem cell markers and ingredients of induction medium

Lim EH, Cho JA, Park H, Song TJ, Kim WY, Kim KH, Lee KW

PURPOSE: We investigated the neurogenic potentials of amniotic fluid-derived stem cells (AFSCs) according to the expression levels of stem cell markers and ingredients in the neural induction media. MATERIALS AND METHODS:...
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Development of cell models for high-throughput screening system of Charcot-Marie-Tooth disease type 1

Choi YR, Jung SC, Shin J, Yoo SY, Lee JS, Joo J, Lee J, Hong YB, Choi BO

PURPOSE: Charcot-Marie-Tooth disease (CMT) is a peripheral neuropathy mainly divided into CMT type 1 (CMT1) and CMT2 according to the phenotype and genotype. Although molecular pathologies for each genetic causative...
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Recent advances in genetic studies of stuttering

Kang C

Speech and language are uniquely human-specific traits, which contributed to humans becoming the predominant species on earth. Disruptions in the human speech and language function may result in diverse disorders....
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Molecular genetic decoding of malformations of cortical development

Lim JS, Lee JH

Malformations of cortical development (MCD) cover a broad spectrum of developmental disorders which cause the various clinical manifestations including epilepsy, developmental delay, and intellectual disability. MCD have been clinically classified...
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Diagnostic approach for genetic causes of intellectual disability

Yim SY

Intellectual disability (ID) is the most common disability among people under the age of 20 years. In the absence of obvious non-genetic causes of ID, the majority of cases of...
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The role of de novo variants in complex and rare diseases pathogenesis

Rahman M, Lee W, Choi M

De novo variants (DNVs) can arise during parental germ cell formation, fertilization, and the processes of embryogenesis. It is estimated that each individual carries 60-100 such spontaneous variants in the...
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