X-linked Opitz G/BBB syndrome: Identification of a novel mutation and prenatal diagnosis in a Korean family
- Authors
- Cho, HJ[Cho, Hyun-Jung]; Shin, MY[Shin, Mee-yong]; Ahn, KM[Ahn, Kang-Mo]; Lee, SI[Lee, Sang Il]; Kim, HJ[Kim, Hee-Jin]; Ki, CS[Ki, Chang-Seok]; Kim, JW[Kim, Jong-Won]
- Issue Date
- Oct-2006
- Publisher
- KOREAN ACAD MEDICAL SCIENCES
- Citation
- JOURNAL OF KOREAN MEDICAL SCIENCE, v.21, no.5, pp.790 - 793
- Indexed
- SCIE
SCOPUS
KCI
- Journal Title
- JOURNAL OF KOREAN MEDICAL SCIENCE
- Volume
- 21
- Number
- 5
- Start Page
- 790
- End Page
- 793
- URI
- https://scholarworks.bwise.kr/skku/handle/2021.sw.skku/86709
- ISSN
- 1011-8934
- Abstract
- X-linked Opitz G/BBB syndrome (XLOS; MIM 300000) is a rare multiple congenital anomaly disorder that is characterized by facial anomalies, laryngeal/tracheal/esophageal defects and genitourinary abnormalities. XLOS is caused by mutations in the MID1 gene which encodes a microtubule-associated RING-Bbox-Coiled-coil (RBCC) protein. We recently found a four-year Korean male patient who was suspected of having XLOS. Mutation analysis of the MID1 gene in the patient and his mother demonstrated that the patient had a novel insertion mutation (c. 1798_1799-insC) and his mother was a heterozygous carrier of the mutation. After identification of the causative mutation in this family, prenatal diagnosis of two consecutive fetuses were successfully undertaken. This is the first report on a genetically confirmed case of XLOS in Korea.
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Collections - Medicine > Department of Medicine > 1. Journal Articles
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