학술논문
A Novel Insertion in Exon 23 of the TCOF1 Gene in a Newborn Infant with Treacher Collins Syndrome
이용수 12
- 영문명
- 발행기관
- 대한의학유전학회
- 저자명
- Ji Hyeon Yang Hyo Hyun Cha Hye Sun Yoon
- 간행물 정보
- 『대한의학유전학회지』제10권 제2호, 109~112쪽, 전체 4쪽
- 주제분류
- 의약학 > 기타의약학
- 파일형태
- 발행일자
- 2013.10.31
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국문 초록
영문 초록
Treacher Collins syndrome (TCS) is the most common and well known mandibulofacial dysostosis with characteristic clinical features including downward slanting of palpebral fissures, coloboma of the lower eyelid, hypoplastic zygomatic arches, micrognathia, macrostomia, microtia, and other deformities of the ears. TCS is caused by mutations in at least 3 genes involved in pre-rRNA transcription: TCOF1, POLR1D and POLR1C. We experienced a 1-day-old female infant with characteristic clinical features of TCS. A novel, heterozygotic mutation within the TCOF1 gene (c.3874_3875insG, p.Ala1292Glyfs*30) was identified to cause a premature stop codon.
목차
Abstract
Introduction
Case Report
Discussion
References
해당간행물 수록 논문
- Prenatal Diagnosis of Chromosome 22q11.2 Deletions: Experiences in a Single Institution
- Pseudohypoaldosteronism Type 1
- Alexander Disease
- A Neonatal Form of Alexander Disease Presented with Intractable Seizures and Obstructive Hydrocephalus
- One Case of BRCA2 Germline Mutation Ovarian Cancer Mother and Carrier Daughter found by Genetic Counseling
- A Novel Insertion in Exon 23 of the TCOF1 Gene in a Newborn Infant with Treacher Collins Syndrome
- Female Carriers of Duchenne Muscular Dystrophy
- A Rare Case of Double Trisomy Mosaicism: 47,XXX/47,XX,+8
- Height and Bone Phenotype of 22q11.2 Deletion Syndrome: Lessons from the Gene Analysis of Three Cases
- Paracentric Inversions Found in Prenatal Diagnosis
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